Molecular Tests (Ordered by Gene)

分子检测 (按基因排序)

除comment列中有特别标记的分子分析外，检测的主要是编码蛋白质序列。


提示：如果在按字母排序的列表中，没有找到你感兴趣的疾病或基因，你可以使用Ctrl-F键搜索整个列表。


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

A

Gene
Gene OMIM
Disease
Disease OMIM
Comment

AAAS (ALADIN, ADRACALIN)

 605378

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

  

ABCA4 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ABCR)

 601691

STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1

 248200  

MACULAR DEGENERATION, AGE-RELATED, TYPE 2
» MACULOPATHY, AGE-RELATED, TYPE  2
» MACULAR DEGENERATION, SENILE

 153800  
RETINITIS PIGMENTOSA 19, RP19 601718  
CONE-ROD DYSTROPHY, TYPE 3, CORD3 604116  

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800

ICHTHYOSIS, LAMELLAR, 2, LI2
» LAMELLAR ICHTHYOSIS, TYPE 2
» ICHTHYOSIS CONGENITA 2B

 601277 5 Exons: 28-32

ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
» HARLEQUIN ICHTHYOSIS

 242500 Whole Gene

ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1)

600509 

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

 256450  
DIABETES MELLITUS, PERMANENT NEONATAL 606176  

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

 300135 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310 .
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) 603234 PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)
 264800 . 
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL DOMINANT)
 177850 . 
ABCD1 300371 ADRENOLEUKODYSTROPHY, ALD
» ADRENOMYELONEUROPATHY, AMN
 300100 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes

ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)

604773

ISOBUTYRYL GLYCINURIA
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
» ACAD8 DEFICIENCY

604773

.

ACADM

607008

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD

201450

Whole Gene or 1 Mutation: K329E

ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) 606885

 

D DEFICIENCY
» SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

 201470 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes

ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)

600301

2-ALPHA-METHYLBUTYRYLGLYCINURIA
» 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD

600301

.

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

609575  ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475 .

ACTA1  (ACTIN)

102610

ACTIN MYOPATHY 

102610

.

NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1

161800

.

NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2

256030

.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255310  

ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN)

 		 102540 DILATED CARDIOMYOPATHY   See ACTC, MYL2 and MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 192600  See ACTC, MYL2 and MYL3

ACTC
MYL2
MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

   19 Exons
ACTN4 (ACTININ, ALPHA-4) 604638 FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278  

ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE)

 608958

SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, SCID

 102700  
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)
 604134 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL, TTP
» SCHULMAN-UPSHAW SYNDROME
 274150 . 
HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
 235400 . 
ADSL (ADENYLOSUCCINATE LYASE)
 103050 ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM
 103050 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860 GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY		 232400  

AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)

 604285

HYPEROXALURIA, PRIMARY, TYPE 1
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
» HEPATIC AGT DEFICIENCY
» SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY

 259900 Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)
AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)
 608894  JOUBERT SYNDROME 3, JBTS3 608629  

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

 605257

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
» HYPER-IgM SYNDROME 2

 605258  
AICDA, CD40, CD40LG, UNG IMMUNODEFICIENCY WITH HYPER-IgM
» HYPER-IgM SYNDROME		 .  

AIRE (AUTOIMMUNE REGULATOR)

 607358

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
» POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE

 240300

Whole Gene
or
2 Common Mutations: R257X and 1094DEL13

ALDOB (ALDOLASE B) 229600 FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY		 229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K
ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1) 601284 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2
» OSLER-RENDU-WEBER DISEASE, TYPE 2
» ORW DISEASE, TYPE 2 		600376  
ALMS1 606844  ALSTROM SYNDROME, ALMS 203800 Exons 10, 16, and part of Exon 8

ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)

 603741 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,  LIPOXYGENASE TYPE 3)

 607206 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF)

 605420

PARIETAL FORAMINA, TYPE 2
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

 609597  

AMPD1  (AMP DEAMINASE)

102770

MYOADENYLATE DEAMINASE DEFICIENCY 

102770

2 Mutations: Q12X, P48L

AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) 238310

NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY

 605899  

ANG (ANGIOGENIN, RNASE5)

 105850 AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 105400  

ANGELMAN

..

See UBE3A 

.

.

ANTITRYPSINE

..

See PI 

.

.

APC

175100

POLYPOSIS COLI, ADENOMATOUS 
» FAMILIAL ADENOMATOUS POLYPOSIS, FAP
» ATTENUATED POLYPOSIS COLI 

175100

Whole Gene or MLPA for Deletions-Duplications

APOA1 (APOLIPOPROTEIN A-1)

107680

HYPO-ALPHALIPOPROTEINEMIA 

604091

L178P Mutation

APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 

107730

 

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE

144010

 2 Mutations: R3500Q  and R3531C

HYPERCHOLESTEROLEMIA

143890

3 mutations: R3500Q, R3500W, H3543Y

HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA		 107730 Whole Gene

APOC2 (APOLIPOPROTEIN C2)

207750

HYPERCHYLOMICRONEMIA

207750

.

APOE (APOLIPOPROTEIN E)
 107741 DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA		 107741 .

APP

104760

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1

104300

Whole Gene or Exons 16 and 17 harbouring the majority of mutations

CEREBRAL AMYLOID ANGIOPATHY 
» AMYLOIDOSIS, CEREBROARTERIAL 
» AMYLOIDOSIS 6 
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY

105150

Whole Gene or Exons 16 and 17 harbouring the majority of mutations

APTX (APRATAXIN)
 606350  ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA		 208920  
AQP2 (AQUAPORIN 2)
 		 107777 DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 . 
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 . 

AR  (ANDROGEN RECEPTOR)

313700

ANDROGEN INSENSITIVITY SYNDROME, AIS

300068

.

REIFENSTEIN SYNDROME 

312300

.

HYPOSPADIAS (X-LINKED) 

.

.

KENNEDY DISEASE 
» SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA

313200

Repeat

ARH 605747 HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 . 

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2

602078

.

ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE)  607574 

METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY

 250100  
PSEUDOARYLSULFATASE A DEFICIENCY 250100  
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) 253200 MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
» N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
 253200 . 

ARSC1  (STEROID SULFATASE, STS)

308100

ICHTHYOSIS (X-LINKED) 
» STEROID SULFATASE DEFICIENCY 

308100

Deletion

ARX

300382

INFANTILE SPASMS (X-LINKED), ISS X 
» WEST SYNDROME 
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

See also Mental Retardation Panel

PARTINGTON SYNDROME, MRXS1
» MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1

309510

LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED) 

300215

MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 300432
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 300412

ASPA  (ASPARTOACYLASE)

271900

CANAVAN DISEASE 
» (See also Molecular Screening Tests)

271900

3 Mutations:
E285A, A305E, Y231X

ASS (ARGININOSUCCINATE SYNTHETASE) 603470 CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY		 215700  
AT3 (SERPINC1)

107300

 ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 . 

ATM

607585

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

.

ATP1A2 182340 FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 Whole Gene or 2 Mutations: L764P and W887R
ATP2A2 (ATP2B, SERCA2) 108740 DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE
 124200  
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE
 101900  
ATP2C1 604384 HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL
 169600  
ATP6V1B1 (ATP6B1
VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)
 192132 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS 267300 . 

ATP7A

300011

MENKES DISEASE 
» KINKY HAIR DISEASE 

309400

.

NEONATAL CUTIS LAXA 
» OCCIPITAL HORN SYNDROME 

304150

.

ATP7B 606882 WILSON DISEASE
» HEPATOLENTICULAR DEGENERATION		 277900 Whole Gene or 1 Mutation: HIS1069GLN

ATP8B1 (FIC1)

 

602397

 

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

.

 
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE
 211600  
ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP
 605239 RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE)
» RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING
» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET SENSORINEURAL HEARING LOSS		 602722 . 

ATROPHIN1

..

See DRPLA 

.

.

ATRX (XNP)
 300032 ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 301040 Blood in RNA PAX tubes
JUBERG-MARSIDI SYNDROME
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)		 309590 Blood in RNA PAX tubes
SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME
» MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME 		309580 Blood in RNA PAX tubes

ATX1  (ATAXIN 1, SCA1, OPCA1)

601556

SPINOCEREBELLAR ATAXIA 1, SCA1

164400

See SCA1, SCA2, SCA3, SCA6, SCA7

ATX2  (ATAXIN 2, SCA2, OPCA2)

601517

SPINOCEREBELLAR ATAXIA 2, SCA2

183090

See SCA1, SCA2, SCA3, SCA6, SCA7

ATX3  (ATAXIN 3, SCA3)

607047

SPINOCEREBELLAR ATAXIA 3, SCA3
» MACHADO-JOSEPH DISEASE 

109150

See SCA1, SCA2, SCA3, SCA6, SCA7

ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8)

 603680  SPINOCEREBELLAR ATAXIA 8, SCA8 608768 Repeat

ATXN10 (SCA10)

 603516  SPINOCEREBELLAR ATAXIA 10, SCA10 603516 Repeat

AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)

600529

3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1
» 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY

250950

.

AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
 304800 DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 . 

AZFa, AZFb and AZFc (including DAZ)

415000

AZOSPERMIA-OLIGOSPERMIA 
» SERTOLI-CELL-ONLY SYNDROME 
» MALE INFERTILITY 

415000

Deletions

 

 

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

B
Gene Gene OMIM Disease Disease OMIM

Comment

BBS1 209901  BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900  
BBS2 606151  BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900  

BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE)

 603647

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 124000 .

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

 603358 .
LEIGH SYNDROME 256000 .

BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)

 608348 

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

 248600  

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

 601299 JUVENILE POLYPOSIS SYNDROME 174900  
POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2 610069