Genes4Life Plus - Genelist

#	Condition	Gene
1	17,20-lyase deficiency	CYP17A1
2	17-alpha-hydroxylase deficiency	CYP17A1
3	3-M syndrome	CCDC8, OBSL1, CUL7
4	3-hydroxyacyl-CoA dehydrogenase deficiency	HADH
5	3-hydroxyisobutryl-CoA hydrolase deficiency	HIBCH
6	3-methylglutaconic aciduria	AUH, CLPB, DNAJC19, HTRA2, OPA3, SERAC1
7	3MC syndrome	COLEC11, MASP1
A
8	Abetalipoproteinemia	MTTP
9	Achalasia-addisonianism-alacrimia syndrome	AAAS
10	Acheiropody	LMBR1
11	Achondrogenesis	SLC26A2, TRIP11
12	Achromatopsia	ATF6, CNGA3, CNGB3, GNAT2
13	Acrocallosal syndrome	KIF7
14	Acrodermatitis enteropathica	SLC39A4
15	Adams-Oliver syndrome	DOCK6, EOGT
16	Adenosine deaminase deficiency	ADA
17	Adenylosuccinase deficiency	ADSL
18	Adrenocorticotropic hormone deficiency	TBX19
19	Adrenoleukodystrophy	ABCD1
20	Afibrinogenemia	FGA, FGB, FGG
21	Agammaglobulinemia	BTK, IGHM
22	Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)	SLC12A6
23	Aicardi-Goutieres syndrome	ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
24	Al Kaissi syndrome	CDK10
25	Alacrima, achalasia, and intellectual disability syndrome	GMPPA
26	Alazami syndrome	LARP7
27	Alkuraya-Kucinskas syndrome	KIAA1109
28	Alpha	MAN2B1
29	Alpha-methylacetoacetic aciduria	ACAT1
30	Alport syndrome	COL4A3, COL4A4, COL4A5
31	Alstrom syndrome	ALMS1
32	Amelogenesis imperfecta and short stature	LTBP3
33	Amish infantile epilepsy syndrome	ST3GAL5
34	Anaemia, sideroblastic, pyridoxine-refractory	SLC25A38
35	Anauxetic dysplasia	POP1, RMRP
36	Antley-Bixler syndrome	POR
37	Aphakia	FOXE3
38	Argininemia	ARG1
39	Argininosuccinic aciduria	ASL
40	Aromatic L-amino acid decarboxylase deficiency	DDC
41	Arterial calcification of infancy	ENPP1
42	Arterial tortuosity syndrome	SLC2A10
43	Arthrogryposis lethal with anterior horn cell disease	GLE1
44	Arthrogryposis multiplex congenita	LGI4
45	Arthrogryposis, distal	ECEL1, PIEZO2
46	Arthrogryposis, intellectual disability, and seizure disorder	SLC35A3
47	Arthrogryposis, renal dysfunction, and cholestasis	VIPAS39, VPS33B
48	Arthropathy, progressive pseudorheumatoid	CCN6
49	Arts syndrome	PRPS1
50	Asparagine synthetase deficiency	ASNS
51	Aspartylglucosaminuria	AGA
52	Ataxia with isolated vitamin E deficiency	TTPA
53	Ataxia, cerebellar, Cayman type	ATCAY
54	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	APTX
55	Ataxia, posterior column, with retinitis pigmentosa	FLVCR1
56	Ataxia-oculomotor apraxia 4	PNKP
57	Ataxia-telangiectasia	ATM, MRE11
58	Atelosteogenesis	SLC26A2
59	Athabascan type	DCLRE1C
60	Athabaskan brainstem dysgenesis syndrome	HOXA1
61	Atransferrinemia	TF
62	Atypical nephropathic	CTNS
63	Autoimmune disease, multisystem, with facial dysmorphism	ITCH
64	Autoinflammation, lipodystrophy, and dermatosis syndrome	PSMB8
B
65	B cell-negative	RAG1, RAG2
66	Baller-Gerold syndrome	RECQL4
67	Band heterotopia	DCX, EML1
68	Band-like calcification with simplified gyration and polymicrogyria	OCLN
69	Bardet-Biedl syndrome	ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8
70	Bare lymphocyte syndrome	CIITA, RFXAP, TAP1
71	Barth syndrome	TAZ
72	Bartter syndrome	BSND, CLCNKB, KCNJ1, SLC12A1
73	Basel-Vanagait-Smirin-Yosef syndrome	MED25
74	Becker muscular dystrophy	DMD
75	Behr syndrome	OPA1
76	Beta	MANBA
77	Beta thalassemia	HBB
78	Bifid nose with or without anorectal and renal anomalies	FREM1
79	Bile acid synthesis defect, congenital	AKR1D1, CYP7B1, HSD3B7
80	Bloom syndrome	BLM
81	Bone marrow failure syndrome	ERCC6L2, DNAJC21
82	Borjeson-Forssman-Lehmann syndrome	PHF6
83	Bosley-Salih-Alorainy syndrome	HOXA1
84	Boucher-Neuhauser syndrome	PNPLA6
85	Bowen-Conradi syndrome	EMG1
86	Brachydactyly	GDF5
87	Brachyolmia 4 with mild epiphyseal and metaphyseal change	PAPSS2
88	Branched-chain ketoacid dehydrogenase kinase deficiency	BCKDK
89	Brittle cornea syndrome	PRDM5
90	Bruck syndrome	FKBP10, PLOD2
91	Brunner syndrome	MAOA
92	Burn-McKeown syndrome	TXNL4A
C
93	C1q	C1QA, C1QB, C1QC
94	C3	C3
95	C5	C5
96	C6	C6
97	C7	C7
98	C8	C8B
99	CAP myopathy	TPM3
100	CHIME syndrome	PIGL
101	CK syndrome	NSDHL
102	COACH syndrome	CC2D2A, RPGRIP1L, TMEM67
103	CODAS syndrome	LONP1
104	CPT 2 deficiency	CPT1A, CPT2
105	CRASH syndrome	L1CAM
106	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	PRG4
107	Canavan disease	ASPA
108	Candidiasis, familial	CARD9
109	Carbamoylphosphate synthetase I deficiency	CPS1
110	Cardiac valvular dysplasia, X-linked	FLNA
111	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	COX15, SCO2
112	Cardiomyopathy, dilated, with woolly hair and keratoderma (Naxos disease)	DSP, JUP
113	Carey-Fineman-Ziter syndrome	MYMK
114	Carnitine deficiency	SLC22A5
115	Carpenter syndrome	RAB23, MEGF8
116	Cartilage-hair hypoplasia	RMRP
117	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)	IARS2
118	Cenani-Lenz syndactyly syndrome	LRP4
119	Central core disease	RYR1
120	Centromeric instability-facial anomalies syndrome	DNMT3B, ZBTB24
121	Cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ)	WDR81, ATP8A2
122	Cerebellar hypoplasia and intellectual disability with or without quadrupedal locomotion	VLDLR
123	Cerebellofaciodental syndrome	BRF1
124	Cerebral creatine deficiency syndrome	GAMT, GATM, SLC6A8
125	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	SNAP29
126	Cerebrooculofacioskeletal syndrome (COFS)	ERCC2, ERCC6
127	Cerebroretinal microangiopathy with calcifications and cysts	CTC1
128	Cerebrotendinous xanthomatosis	CYP27A1
129	Chanarin-Dorfman syndrome	ABHD5
130	Charcot-Marie-Tooth disease	FGD4, FIG4, GDAP1, LMNA, MFN2, MPZ, MTMR2, NDRG1, PRPS1, PRX, SBF2, SH3TC2
131	Chediak-Higashi syndrome	LYST
132	Cholestasis, progressive familial intrahepatic	ABCB11, ABCB4, ATP8B1, TJP2
133	Cholesteryl ester storage disease	LIPA
134	Chondrodysplasia punctata, rhizomelic	AGPS, GNPAT, PEX7
135	Chondrodysplasia, Blomstrand type	PTH1R
136	Chondrodysplasia, Grebe type	GDF5
137	Choreoacanthocytosis	VPS13A
138	Choroideremia	CHM
139	Christianson type	SLC9A6
140	Chronic atrial and intestinal dysrhythmia	SGO1
141	Chudley-McCullough syndrome	GPSM2
142	Chylomicron retention disease	SAR1B
143	Ciliary dyskinesia, primary	OCAD2*, CCDC103, CCDC114, CCDC39, CCDC40, CCNO, DNAAF1, DNAAF3, DNAAF4, DNAAF5, DNAAF6^, GAS8, HYDIN, LRRC6, RSPH1, RSPH4A, RSPH9, SPAG1, ZMYND10
144	Ciliary dyskinesia, primary, with or without situs inversus	DNAH11, DNAH5, DNAI1, DNAI2
145	Citrullinemia	ASS1, SLC25A13
146	Claes-Jensen type	KDM5C
147	Cleft lip/palate-ectodermal dysplasia syndrome	NECTIN1
148	Cockayne syndrome	ERCC4, ERCC5, ERCC6, ERCC8
149	Coenzyme Q10 deficiency	COQ2, COQ4, COQ6, COQ8A
150	Coffin-Lowry syndrome	RPS6KA3
151	Cohen syndrome	VPS13B
152	Combined D-2- and L-2-hydroxyglutaric aciduria	SLC25A1
153	Combined SAP deficiency	PSAP
154	Combined cellular and humoral immune defects with granulomas	RAG1, RAG2
155	Combined factor V and VIII deficiency	LMAN1, MCFD2
156	Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia	MTHFD1
157	Combined immunodeficiency, moderate	IL2RG
158	Combined oxidative phosphorylation deficiency	AARS2, C12orf65, CARS2, FARS2, ELAC2, GFM1, GTPBP3, MTFMT, MTO1, NARS2, RMND1, TSFM, TUFM, VARS2, TRIT1, EARS2
159	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	CD55
160	Cone-rod dystrophy	AIPL1, C8orf37, CEP78, CNGB3, KCNV2, PDE6C, RPGRIP1, SEMA4A
161	Cone-rod synaptic disorder, congenital non-progressive	CABP4
162	Congenital cataracts	AGK, FYCO1, NHS, TDRD7
163	Congenital cataracts, hearing loss, and neurodegeneration	SLC33A1
164	Congenital disorder of deglycosylation	NGLY1
165	Congenital disorders of glycosylation	ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, CCDC115, COG6, COG7, DOLK, DPAGT1, MGAT2, MPI, PGM1, PMM2, RFT1, SLC39A8, SSR4, SRD5A3, TMEM165
166	Congenital heart defects	ZIC3
167	Congenital short bowel syndrome	CLMP, FLNA
168	Congenital stationary night blindness	GPR179, NYX
169	Corneal opacification and other ocular anomalies	PXDN
170	Cortical dysplasia-focal epilepsy syndrome	CNTNAP2
171	Cortical malformations, occipital	LAMC3
172	Cowchock syndrome	AIFM1
173	Cranioectodermal dysplasia	IFT122
174	Craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome	TMCO1
175	Craniofrontonasal dysplasia	EFNB1
176	Craniolenticulosutural dysplasia	SEC23A
177	Cranioosteoarthropathy	HPGD
178	Craniosynostosis	IL11RA
179	Crigler-Najjar syndrome	UGT1A1
180	Crisponi syndrome	CRLF1, CLCF1
181	Cutis laxa, autosomal recessive	ALDH18A1, ATP6V0A2, EFEMP2, FBLN5, LTBP4, PYCR1
182	Cystic fibrosis	CFTR
D
183	D-2-hydroxyglutaric aciduria	D2HGDH
184	D-bifunctional protein deficiency	HSD17B4
185	D-glyceric aciduria	GLYCTK
186	DOOR syndrome	TBC1D24
187	Darsun syndrome	G6PC3
188	De Sanctis-Cacchione syndrome	ERCC6
189	De la Chapelle dysplasia	SLC26A2
190	Deficiency of CYBA	CYBA
191	Deficiency of NCF-1	NCF1
192	Deficiency of NCF-2	NCF2
193	Demirhan type	BMPR1B
194	Dent disease	OCRL, CLCN5
195	Desbuquois dysplasia	CANT1, XYLT1
196	Desmosterolosis	DHCR24
197	Developmental delay with short stature, dysmorphic features, and sparse hair	DPH1
198	Diaphanospondylodysostosis	BMPER
199	Diastrophic dysplasia	SLC26A2
200	Dihydrolipoamide dehydrogenase deficiency	DLD
201	Dilated cardiomyopathy	FKTN
202	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	POR
203	Distal myopathy	DYSF
204	Donnai-Barrow syndrome	LRP2
205	Duchenne muscular dystrophy	DMD
206	Dyggve-Melchior-Clausen disease	DYM
207	Dysautonomia, familial	ELP1
208	Dyserythropoietic anaemia	SEC23B
209	Dysfibrinogenemia	FGA, FGB, FGG
210	Dyskeratosis congenita	DKC1, RTEL1, WRAP53
211	Dysplasminogenemia	PLG
212	Dyssegmental dysplasia, Silverman-Handmaker type	HSPG2
213	Dystonia	COL6A3, PRKRA*
214	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	GCH1
215	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	SPR
E
216	Ectodermal dysplasia	EDA, EDAR, IKBKG, KRT85
217	Ectodermal dysplasia, ectrodactyly and macular dystrophy	CDH3
218	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	FKBP14
219	Ehlers-Danlos syndrome, musculocontractural type	CHST14
220	Ehlers-Danlos syndrome, progeroid type	ADAMTS2, B3GALT6, B4GALT7, PLOD1
221	Ellis-van Creveld syndrome	EVC, EVC2
222	Elsahy-Waters syndrome	CDH11
223	Emery-Dreifuss muscular dystrophy	EMD, FHL1, LMNA
224	Emphysema-cirrhosis, due to AAT deficiency	SERPINA1
225	Encephalopathy, progressive	BSCL2, TBCD, NAXE
226	Epidermolysis bullosa	COL7A1, COL17A1, DSP, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PLEC
227	Epidermolytic hyperkeratosis	KRT10
228	Epilepsy, X-linked, with variable learning disabilities and behaviour disorders	SYN1
229	Epilepsy, early-onset, vitamin B6-dependent	PLPBP
230	Epilepsy, hearing loss, and intellectual disability syndrome	SPATA5
231	Epilepsy, progressive myoclonic	CSTB, EPM2A, GOSR2, KCTD7, NHLRC1, PRICKLE1, SCARB2, TBC1D24
232	Epilepsy, pyridoxine-dependent	ALDH7A1
233	Epileptic encephalopathy, early infantile	AP3B2, ARV1, ARX, ARHGEF9, DENND5A, FRRS1L, MECP2, SLC13A5, SLC12A5, SLC25A22, TBC1D24, UBA5, WWOX
234	Escobar syndrome	CHRNG
235	Ethylmalonic encephalopathy	ETHE1
F
236	Fabry disease	GLA
237	Factor D	CFD
238	Factor H	CFH
239	Factor I	CFI
240	Factor V deficiency	F5
241	Factor VII deficiency	F7
242	Familial hypercholesterolemia	LDLR, LDLRAP1
243	Fanconi anaemia	ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, UBE2T
244	Fanconi-Bickel syndrome	SLC2A2
245	Farber lipogranulomatosis	ASAH1
246	Fetal akinesia deformation sequence	RAPSN
247	Fibrochondrogenesis	COL11A1, COL11A2
248	Filippi syndrome	CKAP2L
249	Focal segmental glomerulosclerosis	CRB2
250	Folate malabsorption, hereditary	SLC46A1
251	Foveal hypoplasia, with or without optic nerve misrouting and/or anterior segment dysgenesis	SLC38A8
252	Fragile X syndrome	FMR1
253	Frank-ter Haar syndrome	SH3PXD2B
254	Fraser syndrome	FRAS1, FREM2
255	Frontometaphyseal dysplasia	FLNA
256	Fructose intolerance	ALDOB
257	Fructose-1,6-bisphosphatase deficiency	FBP1
258	Fucosidosis	FUCA1
259	Fuhrmann syndrome	WNT7A
260	Fumarase deficiency	FH
G
261	GABA-transaminase deficiency	ABAT
262	GAPO syndrome	ANTXR1
263	GM1-gangliosidosis	GLB1
264	GM2-gangliosidosis	HEXA, GM2A
265	GRACILE syndrome	BCS1L
266	Galactosemia	GALT*
267	Galactosialidosis	CTSA
268	Galloway-Mowat syndrome	WDR73, OSGEP
269	Gastrointestinal defects and immunodeficiency syndrome	TTC7A
270	Gaucher disease	GBA, PSAP
271	Gaze palsy, horizontal, with progressive scoliosis	ROBO3
272	Geleophysic dysplasia	ADAMTSL2
273	Geroderma osteodysplasticum	GORAB
274	Giant axonal neuropathy	GAN
275	Gillespie syndrome	ITPR1
276	Glaucoma (congenital)	CYP1B1
277	Glucocorticoid deficiency	MC2R, MRAP, NNT
278	Glutamate formiminotransferase deficiency	FTCD
279	Glutaric acidemia	ETFA, ETFB, ETFDH
280	Glutaricaciduria	GCDH
281	Glutathione synthetase deficiency	GSS
282	Glycerol kinase deficiency	GK
283	Glycine encephalopathy	AMT, GLDC
284	Glycogen storage disease	AGL, G6PC, GYS2, GBE1, LDHA, PFKM, SLC37A4
285	Glycogen storage disease (Pompe)	GAA
286	Glycosylphosphatidylinositol biosynthesis defect	GPAA1
287	Goldberg-Shprintzen megacolon syndrome	KIFBP
288	Greenberg skeletal dysplasia	LBR
289	Griscelli syndrome	RAB27A
290	Growth hormone deficiency with pituitary anomalies	HESX1
291	Growth retardation, developmental delay, coarse facies, and early death	FTO
292	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	IARS1
H
293	HELIX syndrome	CLDN10
294	HMG-CoA lyase deficiency	HMGCL
295	HMG-CoA synthase-2 deficiency	HMGCS2
296	HSAN2D syndrome	SCN9A
297	HSD10 disease	HSD17B10
298	Haemolytic anaemia due to hexokinase deficiency	HK1
299	Haemophilia A	F8
300	Haemophilia B	F9
301	Haim-Munk syndrome	CTSC
302	Hemochromatosis	HAMP, HJV
303	Hemolytic anaemia due to triosephosphate isomerase deficiency	TPI1
304	Hemophagocytic lymphohistiocytosis	PRF1, STX11, STXBP2, UNC13D
305	Hemorrhagic destruction of the brain with subependymal calcification and cataracts	JAM3
306	Hemorrhagic diathesis due to antithrombin Pittsburgh	SERPINA1
307	Hennekam lymphangiectasia-lymphedema syndrome	CCBE1, FAT4
308	Hepatic lipase deficiency	LIPC
309	Hepatic veno-occlusive disease with immunodeficiency	SP110
310	Hermansky-Pudlak syndrome	HPS1, HPS3, HPS4, HPS5, HPS6
311	Heterotaxy, visceral	ZIC3, MMP21
312	Histiocytosis-lymphadenopathy plus syndrome	SLC29A3
313	Holocarboxylase synthetase deficiency	HLCS
314	Homocystinuria	MMADHC, MTHFR, MTR, MTRR
315	Hunter-Thompson type GDF5
316	Hyaline fibromatosis syndrome	ANTXR2
317	Hydrocephalus due to aqueductal stenosis	L1CAM
318	Hydrocephalus with Hirschsprung disease	L1CAM
319	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	L1CAM
320	Hydrolethalus syndrome	HYLS1, KIF7
321	Hyper-IgD syndrome	MVK
322	Hyper-IgE recurrent infection syndrome	DOCK8
323	Hyper-IgM	CD40, CD40LG
324	Hyperbilirubinemia, familial transient neonatal	UGT1A1
325	Hypercholanaemia	TJP2
326	Hyperekplexia	ATAD1, SLC6A5
327	Hyperinsulinemic hypoglycemia	ABCC8, HADH, KCNJ11
328	Hypermanganesemia with dystonia	SLC39A14
329	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	SLC25A15
330	Hyperoxaluria	AGXT
331	Hyperparathyroidism, neonatal severe	CASR
332	Hyperphenylalaninemia	PTS, QDPR, DNAJC12
333	Hyperphosphatasia with intellectual disability syndrome	PIGV, PIGO, PGAP2, PGAP3
334	Hypertrophic osteoarthropathy	HPGD
335	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA syndrome)	SARS2
336	Hypodysfibrinogenemia	FGA, FGB, FGG
337	Hypofibrinogenemia	FGA, FGB, FGG
338	Hypomagnesemia	CLDN19, SLC30A10, TRPM6
339	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)	DARS1
340	Hypoparathyroidism-retardation-dysmorphism syndrome	TBCE
341	Hypophosphatasia, infantile	ALPL
342	Hypophosphatemic rickets	ENPP1
343	Hypoplastic left heart syndrome	GJA1
344	Hypoprothrombinemia	F2
345	Hypothryoidism, congenital	TSHB
346	Hypotonia, infantile, with psychomotor retardation and characteristic facies	TBCK, UNC80, NALCN
I
347	IFAP syndrome with or without BRESHECK syndrome	MBTPS2
348	Ichthyosis, congenital, autosomal recessive	ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1
349	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	CLDN1
350	Immunodeficiency	ATP6AP1, CARD11, CD3D, CTPS1, DOCK2, ICOS, IKBKB, IL12RB1, IL17RA LAT, LRBA, MALT1, ORAI1, PGM3, RORC, STIM1, TYK2
351	Immunodysregulation, polyendocrinopathy, and enteropathy	FOXP3
352	Immunoskeletal dysplasia with neurodevelopmental abnormalities	EXTL3
353	Including Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease	PEX1, PEX10, PEX11B, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7
354	Inclusion body myopathy	GNE
355	Infantile cerebellar-retinal degeneration	ACO2
356	Infantile liver failure syndrome	LARS1
357	Infantile neuroaxonal dystrophy 1	PLA2G6
358	Infantile or childhood-onset striatonigral degeneration	NUP62, VAC14*
359	Inflammatory bowel disease, congenital, severe	IL10RA, IL10RB*
360	Insensitivity to pain, congenital	SCN9A, NTRK1
361	Insulin-like growth factor resistance	IGF1R
362	Insulin-resistant, with acanthosis nigricans	INSR
363	Intellectual developmental disorder with cardiac arrhythmia	GNB5
364	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	OTUD6B
365	Intellectual developmental disorder with microcephaly and short stature	PUS7 *Not screened in WA, QLD and SA
366	Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance	OPHN1
367	Intellectual disability, truncal obesity, retinal dystrophy, and micropenis	INPP5E
368	Interleukin 1 receptor antagonist deficiency	IL1RN
369	Interstitial lung and liver disease	MARS1
370	Isolated	ASPM, CDK5RAP2, CENPJ, CEP152, CIT, KIF14, KNL1, MCPH1, MFSD2A, MED17, PNKP, SLC25A19, STIL, WDR62, ZNF335
371	Isolated	ALDH1A3, RAX, VSX2
372	Isovaleric acidemia	IVD
J
373	Jalili syndrome	CNNM4
374	Jawad syndrome	RBBP8
375	Jensen syndrome	TIMM8A
376	Jervell and Lange-Nielsen syndrome	KCNQ1
377	Johanson-Blizzard syndrome	UBR1
378	Joubert syndrome	AHI1, ARL13B, CC2D2A, CEP290, CEP41, CPLANE1, CSPP1, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67
379	Juvenile primary lateral sclerosis	ALS2
K
380	Kahrizi syndrome	SRD5A3
381	Kaufman oculocerebrofacial syndrome	UBE3B
382	Kenny-Caffey syndrome	TBCE
383	Keratosis linearis with ichthyosis congenital and sclerosing keratoderma	POMP
384	Keutel syndrome	MGP
385	Kindler syndrome	FERMT1
386	Knobloch syndrome	COL18A1
387	Kohlschutter-tonz syndrome	ROGDI
388	Krabbe disease	GALC, PSAP
L
389	L-2-hydroxyglutaric aciduria	L2HGDH
390	LCHAD deficiency	HADHA
391	LIG4 syndrome	LIG4
392	Lactate dehydrogenase-B deficiency	LDHB
393	Laron syndrome	GHR
394	Laryngoonychocutaneous syndrome	LAMA3
395	Late-onset juvenile or adolescent nephropathic	CTNS
396	Lathosterolosis	SC5D
397	Leber congenital amaurosis	AIPL1, CEP290, CRB1, GUCY2D, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
398	Leigh syndrome due to cytochrome c oxidase deficiency	COX15
399	Leigh syndrome, French Canadian type	LRPPRC
400	Leprechaunism	INSR
401	Lesch-Nyhan syndrome	HPRT1
402	Lethal congenital contracture syndrome	CNTNAP1, GLE1, GLDN
403	Lethal type	CHRNA1, RIPK4
404	Leukocyte adhesion deficiency	FERMT3, ITGB2
405	Leukodystrophy, hypomyelinating	AIMP1, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, PYCR2, RARS1, UFM1, VPS11
406	Leukoencephalopathy with ataxia	CLCN2
407	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	DARS2
408	Leukoencephalopathy with vanishing white matter	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
409	Leukoencephalopathy, cystic, without megalencephaly	RNASET2
410	Limb-girdle muscular dystrophy	CAPN3, DYSF, PLEC, SGCA, SGCB, SGCD, SGCG, TCAP, TRAPPC11, TRIM32, TTN
411	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	FLAD1
412	Lipodystrophy, congenital generalized	BSCL2, CAVIN1
413	Lipoid type	STAR
414	Lipoprotein lipase deficiency	LPL
415	Lipoyltransferase 1 deficiency	LIPT1
416	Lissencephaly	ARX, KATNB1, LAMB1, NDE1, DCX, TMTC3
417	Liver failure, transient infantile	TRMU
418	Lowe syndrome	OCRL
419	Lujan-Fryns syndrome	MED12
420	Lymphoproliferative syndrome	CD27, ITK, SH2D1A, XIAP
421	Lysinuric protein intolerance	SLC7A7
M
422	MASA syndrome	L1CAM
423	MEHMO syndrome	EIF2S3
424	MHC class II deficiency, complementation group B	RFXANK
425	Macrocephaly, alopecia, cutis laxa, and scoliosis	RIN2
426	Macular degeneration (congenital)	CNGB3, RPGR
427	Macular dystrophy with central cone involvement	MFSD8
428	Majeed syndrome	LPIN2
429	Malonyl-CoA decarboxylase deficiency	MLYCD
430	Mandibuloacral dysplasia	LMNA
431	Mandibuloacral dysplasia with type B lipodystrophy	ZMPSTE24
432	Maple syrup urine disease	BCKDHA, BCKDHB, DBT
433	Marinesco-Sjogren syndrome	SIL1
434	Maroteaux type	NPR2
435	Martsolf syndrome	RAB3GAP2
436	McKusick-Kaufman syndrome	MKKS
437	Meckel syndrome	CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, TMEM231, TMEM67
438	Meconium ileus	GUCY2C
439	Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency	ACADM *Not screened in WA, QLD and SA
440	Meester-Loeys syndrome	BGN
441	Megalencephalic leukoencephalopathy with subcortical cysts	HEPACAM, MLC1
442	Meier-Gorlin syndrome	CDT1, CDC45, ORC1, ORC6
443	Menkes disease and occipital horn syndrome	ATP7A
444	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2
445	Metachromatic leukodystrophy	ARSA, PSAP
446	Metaphyseal dysplasia without hypotrichosis	RMRP
447	Methemoglobinemia	CYB5R3
448	Methylmalonic aciduria	MMADHC, MMUT
449	Methylmalonic aciduria and homocystinuria	LMBRD1, MMACHC, MMADHC
450	Methylmalonic aciduria, vitamin B12-responsive	MMAA, MMAB
451	Mevalonic aciduria	MVK
452	Microcephalic osteodysplastic primordial dwarfism	PCNT, RNU4ATAC
453	Microcephaly and chorioretinopathy	TUBGCP4, TUBGCP6
454	Microcephaly, epilepsy, and diabetes syndrome	IER3IP1
455	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	QARS1
456	Microcephaly, seizures, spasticity, and brain calcification	PCDH12
457	Microcephaly, short stature, and impaired glucose metabolism	TRMT10A
458	Microcephaly, short stature, and limb abnormalities	DONSON
459	Microcephaly, short-stature and endocrine dysfunction	XRCC4
460	Microcephaly-capillary malformation syndrome	STAMBP
461	Microvillus inclusion disease	MYO5B
462	Miller syndrome	DHODH
463	Minicore myopathy	RYR1
464	Mitchell-Riley syndrome	RFX6
465	Mitochondrial DNA depletion syndrome	DGUOK, FBXL4, MGME1, MPV17, RRM2B, SUCLA2, SUCLG1, TK2, TWNK, TYMP
466	Mitochondrial complex I deficiency	ACAD9, FOXRED1, NUBPL, NDUFA1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFA10, NDUFA11, NDUFS6, NDUFS4, NDUFS2, NDUFS7, NDUFS8, NDUFS1, NDUFV1, NDUFV2
467	Mitochondrial complex II deficiency	SDHAF1
468	Mitochondrial complex III deficiency	BCS1L, LYRM7, TTC19, UQCRQ
469	Mitochondrial complex IV deficiency	COX10, COA8, COX20, SURF1, PET100
470	Mitochondrial complex V deficiency	TMEM70
471	Mitochondrial neurodevelopmental disorder, with abnormal movements and lactic acidosis	WARS2
472	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	TWNK
473	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	ECHS1
474	Mohr-Tranebjaerg syndrome	TIMM8A
475	Molybdenum cofactor deficiency	GPHN, MOCS1, MOCS2
476	Monocarboxylate transporter 1 deficiency	SLC16A1
477	Mosaic variegated aneuploidy syndrome	BUB1B
478	Moyamoya disease	GUCY1A1
479	Mucolipidosis	GNPTAB, GNPTG, MCOLN1
480	Mucopolysaccharidosis	GALNS, GNS, GUSB, IDS, IDUA
481	Mulibrey nanism	TRIM37
482	Multicentric osteolysis, nodulosis, and arthropathy	MMP2
483	Multiple congenital anomalies-hypotonia-seizures syndrome	PIGA, PIGN, PIGT
484	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	B3GAT3
485	Multiple mitochondrial dysfunctions syndrome	BOLA3, IBA57, ISCA2, NFU1
486	Multiple sulfatase deficiency	SUMF1
487	Muscular dystrophy, congenital	CHKB, LAMA2
488	Muscular dystrophy, congenital, with cataracts and intellectual disability	INPP5K
489	Muscular dystrophy, rigid spine	SELENON
490	Muscular dystrophy-dystroglycanopathy	B3GALNT2, CRPPA, FKRP, FKTN, GMPPB, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1
491	Myasthenic syndrome	AGRN, ALG2, CHAT, CHRNA1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, IGHMBP2, MUSK, RAPSN, SLC5A7
492	Mycobacteriosis	CYBB, IFNGR1, IFNGR2, STAT1
493	Myoglobinuria, acute recurrent	LPIN1
494	Myopathy with extrapyramidal signs	MICU1
495	Myopathy, X-linked	FHL1
496	Myopathy, X-linked, with excessive autophagy	VMA21
497	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	MEGF10
498	Myopathy, centronuclear, autosomal recessive	BIN1, SPEG*
499	Myopathy, congenital	ACTA1
500	Myopathy, early-onset, with fatal cardiomyopathy	TTN
501	Myopathy, lactic acidosis, and sideroblastic anaemia	PUS1, LARS2, YARS2
502	Myopathy, mitochondrial, and ataxia	MSTO1 *Not screened in WA, QLD and SA
503	Myopathy, myofibrillar	KY, PYROXD1
504	Myotubular myopathy, X-linked	MTM1
N
505	N-acetylglutamate synthase deficiency	NAGS
506	N-terminal acetyltransferase deficiency	NAA10
507	Nance-Horan syndrome	NHS
508	Nascimento type	UBE2A
509	Natural killer cell and glucocorticoid deficiency with DNA repair defect	MCM4
510	Nemaline myopathy	ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM3
511	Neonatal, with congenital hypothyroidism	GLIS3
512	Nephrogenic diabetes insipidus	AQP2
513	Nephronophthisis and related conditions	ANKS6, DCDC2, INVS, MAPKBP1, NPHP1, NPHP3, NPHP4, TMEM67, TTC21B, WDR19
514	Nephropathic	CTNS
515	Nephrotic syndrome	COQ8B, DGKE, LAMB2, NPHS1, NPHS2, NUP107, NUP93, PLCE1, SGPL1
516	Netherton syndrome	SPINK5
517	Neu-Laxova syndrome	PHGDH, PSAT1
518	Neurodegeneration due to cerebral folate transport deficiency	FOLR1
519	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	SQSTM1
520	Neurodegeneration with brain iron accumulation	C19orf12, PANK2, PLA2G6
521	Neurodegeneration, stress-induced, with variable ataxia and seizures	ADPRS*
522	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	PTPN23 *Not screened in WA, QLD and SA
523	Neurodevelopmental disorder with brain anomalies and additional features	PLAA, PRUNE1, VARS1, WDR45B
524	Neuromyotonia and axonal neuropathy	HINT1
525	Neuronal ceroid lipofuscinoses	CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, MFSD8, PPT1, TPP1
526	Neuropathy, hereditary motor and sensory	HK1, IGHMBP2, KIF1A, SLC25A46
527	Neuropathy, hereditary sensory and autonomic	NGF, PRDM12, RETREG1, WNK1
528	Niemann-Pick disease	NPC1, NPC2, SMPD1
529	Nijmegen breakage syndrome	NBN, RAD50
530	Non-syndromic hydrocephalus	L1CAM, CCDC88C, MPDZ
531	Non-syndromic intellectual disability, X-linked	AP1S2, ARX, ATRX, BRWD3, CASK, CLCN4, CUL4B, DLG3, FTSJ1, GDI1, HCFC1, IL1RAPL1, IQSEC2, MECP2, NEXMIF, NLGN4X, PAK3, RAB39B, RLIM, SLC16A2, SYP, THOC2, TSPAN7, USP9X, ZNF711
532	Non-syndromic intellectual disability, autosomal recessive	ADAT3, CC2D1A, ELP2, GPT2, HERC2, KPTN, LINS1, MAN1B1, MBOAT7, MED23, METTL23, NSUN2, PGAP1, PIGG, TRAPPC9, TTI2, TUSC3
533	Norrie disease	NDP
534	Norum disease	LCAT
O
535	Obesity, morbid, due to leptin deficiency	LEP
536	Ocular non-nephropathic	CTNS
537	Oculocutaneous albinism	GPR143, LRMDA, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
538	Oculodentodigital dysplasia	GJA1
539	Ohdo syndrome	MED12
540	Oliver-McFarlane syndrome	PNPLA6
541	Omenn syndrome	DCLRE1C, RAG1, RAG2
542	Omodysplasia	GPC6
543	Opitz GBBB syndrome	MID1
544	Opitz-Kaveggia syndrome	MED12
545	Opsismodysplasia	INPPL1
546	Optic atrophy	TMEM126A
547	Optic atrophy with or without ataxia, intellectual disability, and seizures	RTN4IP1
548	Ornithine transcarbamylase deficiency	OTC
549	Orofacial cleft	NECTIN1
550	Orofaciodigital syndrome	CPLANE1, C2CD3, DDX59, SERPINH1, TMEM107, TCTN3
551	Orotic aciduria	UMPS
552	Osteogenesis imperfecta, recessive type	CRTAP, FKBP10, P3H1, PPIB*, SERPINF1, WNT1
553	Osteopetrosis, infantile	CA2, CLCN7, OSTM1, TCIRG1, TNFRSF11A, TNFSF11
554	Osteoporosis-pseudoglioma syndrome	LRP5
555	Otospondylomegaepiphyseal dysplasia	COL11A2
P
556	PEHO syndrome	ZNHIT3
557	PERCHING syndrome	KLHL7
558	Paget disease of bone	TNFRSF11B
559	Papillon-Lefevre syndrome	CTSC
560	Parkinson disease, juvenile-onset	DNAJC6, FBXO7, PLA2G6, ATP13A2
561	Parkinsonism-dystonia, infantile	SLC6A3
562	Partington syndrome	ARX
563	Pelizaeus-Merzbacher disease	PLP1
564	Periventricular heterotopia with microcephaly	ARFGEF2
565	Perlman syndrome	DIS3L2
566	Peroxisomal acyl-CoA oxidase deficiency	ACOX1
567	Persistent hyperplastic primary vitreous	ATOH7
568	Peters anomaly	CYP1B1
569	Peter’s plus syndrome	B3GLCT
570	Phenylketonuria (PKU)	PAH
571	Phosphoglycerate dehydrogenase deficiency	PHGDH
572	Phosphoglycerate kinase 1 deficiency	PGK1
573	Phosphoribosylpyrophosphate synthetase superactivity	PRPS1
574	Phosphoserine phosphatase deficiency	PSPH
575	Pierson syndrome	LAMB2
576	Pitt-Hopkins-like syndrome	CNTNAP2
577	Pituitary hormone deficiency	HESX1, LHX3
578	Plasminogen deficiency	PLG
579	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B
580	Poikilderma with neutropenia	USB1
581	Polyarteritis nodosa, childhood-onset	ADA2
582	Polycystic kidney and hepatic disease	PKHD1
583	Polyglucosan body myopathy 1 with or without immunodeficiency	RBCK1
584	Polyhydramnios, megalencephaly, and symptomatic epilepsy	STRADA
585	Polymicrogyria	ADGRG1, RTTN
586	Pontocerebellar hypoplasia	AMPD2, CLP1, EXOSC3, EXOSC8, RARS2, SEPSECS, TBC1D23, TOE1, TSEN2, TSEN54, VPS53, VRK1
587	Poretti-Boltshauser syndrome	LAMA1
588	Porokeratosis 3, disseminated superficial actinic	MVK
589	Porphyria	ALAD, UROS
590	Progressive external ophthalmoplegia	POLG
591	Prolidase deficiency	PEPD
592	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome	FLVCR2
593	Proopiomelanocortin (POMC) deficiency	POMC
594	Properdin deficiency	CFP
595	Propionicacidemia	PCCA, PCCB
596	Proprotein convertase 1 deficiency	PCSK1
597	Protein-losing enteropathy type	DGAT1
598	Proteinuria	CLCN5
599	Proud syndrome	ARX
600	Pseudohypoaldosteronism	SCNN1A, SCNN1B
601	Pulmonary veno-occlusive disease	EIF2AK4
602	Purine nucleoside phosphorylase deficiency	PNP
603	Pycnodysostosis	CTSK
604	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	MYD88
605	Pyridoxamine 5'-phosphate oxidase deficiency	PNPO
606	Pyruvate carboxylase deficiency	PC
607	Pyruvate dehydrogenase deficiency	PDHA1, PDHB, PDP1
608	Pyruvate dehydrogenase lipoic acid synthetase deficiency	LIAS
609	Pyruvate kinase deficiency	PKLR
R
610	RAPADILINO syndrome	RECQL4
611	Rabson-Mendenhall syndrome	INSR
612	Raine syndrome	FAM20C
613	Raymond type	ZDHHC9
614	Refsum disease	PHYH
615	Renal tubular acidosis	ATP6V0A4
616	Renal tubular acidosis with other abnormalities	ATP6V1B1, SLC4A4, SLC4A1
617	Renal tubular dysgenesis	ACE, AGT, REN
618	Renal-hepatic-pancreatic dysplasia	NPHP3, NEK8
619	Renpenning syndrome	PQBP1
620	Restrictive dermopathy, lethal	LMNA, ZMPSTE24
621	Reticular dysgenesis	AK2
622	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	IGFBP7
623	Retinal dystrophy, early-onset severe	LRAT, RCBTB1, CFAP410
624	Retinitis pigmentosa	AGBL5, AIPL1, C8orf37, CRB1, DHDDS, IFT172, LRAT, MERTK, REEP6, RP2, SEMA4A, SPATA7, TULP1, USH2A
625	Retinitis pigmentosa with skeletal anomalies	CWC27
626	Riboflavin transport deficiency syndrome	SLC52A2, SLC52A3
627	Right atrial isomerism	GDF1
628	Rigidity and multifocal seizure syndrome, lethal neonatal	BRAT1
629	Roberts syndrome	ESCO2
630	Robinow syndrome	ROR2
631	Rothmund-Thomson syndrome	RECQL4
S
632	SC phocomelia syndrome	ESCO2
633	SESAME syndrome	KCNJ10
634	Salla disease	SLC17A5
635	Salt and pepper developmental regression syndrome	ST3GAL5
636	Sandhoff disease	HEXB
637	Schimke immunoosseous dysplasia	SMARCAL1
638	Schindler disease	NAGA
639	Schneckenbecken dysplasia	SLC35D1
640	Schwartz-Jampel syndrome	HSPG2
641	Sclerosteosis	LRP4, SOST
642	Seckel syndrome	ATR, CENPJ, CEP152, RBBP8
643	Secretory chloride, congenital	SLC26A3
644	Secretory sodium, congenital,	SPINT2, SLC9A3
645	Segawa syndrome	TH
646	Selective T-cell defect	ZAP70
647	Senior-Loken syndrome	CEP290, NPHP1, NPHP4, SDCCAG8, IQCB1, WDR19
648	Sensorineural hearing loss, premature ovarian failure (females), variable intellectual disability, spasticity, ataxia	CLPP
649	Septooptic dysplasia	HESX1
650	Severe combined immunodeficiency	IL2RG
651	Severe salt wasting type	CYP11A1, CYP11B2, NR0B1, POU1F1, PROP1, HSD3B2
652	Severe, congenital	G6PC3, HAX1, JAGN1, VPS45, WAS
653	Shaheen syndrome	COG6
654	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	POC1A
655	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	NBAS
656	Short-rib thoracic dysplasia with or without polydactyly	CEP120, DYNC2H1, DYNC2I1, DYNC2I2^, DYNC2LI1, KIAA0586, TTC21B, WDR35, IFT140, IFT172, IFT80, NEK1 Formerly known as WDR60 ^Formerly known as WDR34
657	Shwachman-Diamond syndrome	SBDS
658	Sialic acid storage disorder	SLC17A5
659	Sialidosis	NEU1
660	Sickle cell disease	HBB
661	Siderius type	PHF8
662	Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay	TRNT1
663	Sideroblastic, with ataxia	ABCB7
664	Simpson-Golabi-Behmel syndrome	OFD1, GPC3
665	Sjogren-Larsson syndrome	ALDH3A2
666	Smith-Lemli-Opitz syndrome	DHCR7
667	Smith-McCort dysplasia	DYM, RAB33B
668	Snyder-Robinson type	SMS
669	Spastic ataxia	KIF1C, MARS2, NKX6-2, SACS
670	Spastic paralysis, infantile onset ascending	ALS2
671	Spastic paraplegia	AP4M1, AP4B1, AP4S1, ATP13A2, ALDH18A1, B4GALNT1, CYP2U1, CYP7B1, DDHD2, DSTYK, FA2H, FARS2, GBA2, GJC2, KIF1A, NT5C2, PLP1, PNPLA6, SPG11, VPS37A, ZFYVE26
672	Spastic paraplegia and psychomotor retardation with or without seizures	HACE1
673	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	SLC1A4
674	Spinal muscular atrophy	SMN1, UBA1
675	Spinal muscular atrophy with congenital bone fractures	ASCC1
676	Spinal muscular atrophy with progressive myoclonic epilepsy	ASAH1
677	Spinocerebellar ataxia	GRM1, PMPCA, SETX, SNX14, STUB1, SCYL1, TPP1, WWOX
678	Split-hand foot malformation	WNT10B
679	Spondylo-megaepiphyseal-metaphyseal dysplasia	NKX3-2
680	Spondylocarpotarsal synostosis syndrome	FLNB
681	Spondylocostal dysostosis	DLL3, HES7, MESP2
682	Spondyloepimetaphyseal dysplasia	B3GALT6, NANS
683	Spondyloepiphyseal dysplasia with other abnormalities	CHST3, CCN6
684	Spondylometaepiphyseal dysplasia, short limb-hand type	DDR2
685	Spondylometaphyseal dysplasia with additional abnormalities	PCYT1A, CFAP410
686	Spondyloocular syndrome	XYLT2
687	Steel syndrome	COL27A1
688	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	LIFR
689	Succinic semialdehyde dehydrogenase deficiency	ALDH5A1
690	Sudden cardiac failure, infantile	PPA2
691	Sulfite oxidase deficiency	SUOX
692	Surfactant metabolism dysfunction, pulmonary	ABCA3, SFTPB
693	Syndromic	STRA6, RARB
T
694	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	FOXN1
695	T-cell negative, B-cell/natural killer cell-positive type	IL7R, JAK3
696	TARP syndrome	RBM10
697	Tay-Sachs disease	HEXA
698	Temtamy preaxial brachydactyly syndrome	CHSY1
699	Temtamy syndrome	C12orf57
700	Thiamine metabolism dysfunction syndrome	SLC19A2, SLC19A3, SLC25A19, TPK1
701	Thrombocytopenia, X-linked	WAS
702	Thrombocytopenia, congenital amegakaryocytic	MPL
703	Thrombophilia	PROC, PROS1
704	Thrombotic thrombocytopenic purpura	ADAMTS13
705	Transaldolase deficiency	TALDO1
706	Transcobalamin II deficiency	TCN2
707	Transient bullous of the newborn	COL7A1
708	Treacher-Collins syndrome	POLR1C
709	Trichohepatoenteric syndrome	SKIV2L, TTC37
710	Trifunctional protein deficiency	HADHA, HADHB
711	Triochthiodystrophy	ERCC2, GTF2H5, MPLKIP
712	Troyer syndrome	SPART
713	Tumoral calcinosis, normophosphatemic	SAMD9
714	Turner type	HUWE1
715	Type 14	UPF3B
716	Type IIIA (Sanfilippo A)	SGSH
717	Type IIIB (Sanfilippo B)	NAGLU
718	Type IIIC (Sanfilippo C)	HGSNAT
719	Type IVB (Morquio)	GLB1
720	Type VI (Maroteaux-Lamy)	ARSB
721	Tyrosinemia	FAH, HPD
U
722	Ullrich congenital muscular dystrophy	COL6A1, COL6A2, COL6A3
723	Ulna and fibula, absence of, with severe limb deficiency	WNT7A
724	Urofacial syndrome	HPSE2, LRIG2
725	Usher syndrome	ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN
V
726	VACTERL association X-linked	ZIC3
727	VLCAD deficiency	ACADVL
728	Van Buchem disease	SOST
729	Van Maldergem syndrome	DCHS1, FAT4
730	Van den Ende-Gupta syndrome	SCARF2
731	Ventricular tachycardia, catecholaminergic polymorphic	CASQ2
732	Ventricular tachycardia, catecholaminergic polymorphic with or without muscle weakness	TRDN
733	Ventriculomegaly with cystic kidney disease	CRB2
734	Vici syndrome	EPG5
735	Vitamin K-dependent clotting factors, combined deficiency of	VKORC1
736	Von Willebrand disease	VWF
W
737	Warburg micro syndrome	RAB18, RAB3GAP1, RAB3GAP2
738	Warsaw breakage syndrome	DDX11
739	Werner syndrome	WRN
740	Wieacker-Wolff syndrome	ZC4H2
741	Wilson disease	ATP7B
742	Wiskott-Aldrich syndrome	WAS
743	With coloboma	STRA6, VSX2
744	With microcephaly, growth retardation, and sensitivity to ionizing radiation	NHEJ1
745	With tufting enteropathy, congenital	EPCAM
746	Wolcott-Rallison syndrome	EIF2AK3
747	Wolfram syndrome	CISD2, WFS1
748	Wolman disease	LIPA
749	Woodhouse-Sakati syndrome	DCAF17
X
750	X-linked	CYBB
751	XFE progeroid syndrome	ERCC4
752	Xeroderma pigmentosum	ERCC2, ERCC4, ERCC5, XPA, XPC
Y
753	You-Hoover-Fong syndrome	TELO2
754	Yunis-Varon syndrome	FIG4