ATP8A2 - ATPase phospholipid transporting 8A2 Gene

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 4

CAMRQ4

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 4

Ataxia, Cerebellar, Mental Retardation, And Dysequilibrium Syndrome, Type 4

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Nephrolithiasis 1

Nephrolithiasis X-Linked Recessive Type 1

Nphl1

X-Linked Nephrolithiasis With Renal Failure

X-Linked Recessive Urolithiasis Type 1

Xrn

Cfeom-U

Congenital Fibrosis Of The Extraocular Muscles 4

Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

Fibrosis Of Extraocular Muscles, Congenital, 4

Cfeom4

Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

Congenital Fibrosis Of The Extraocular Muscles

Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia

Barber Say Syndrome

BBRSAY

Bss

Hypertrichosis Atrophic Skin Ectropion Macrostomia

Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Athetoid Cerebral Palsy

Athetoid Dyskinetic Cerebral Palsy

Cerebral Palsy Athetoid

Cerebral Palsy Dyskinetic

Athetoid Cerebral Paralysis

Dyskinetic Cerebral Paralysis

Vogt Disease

Athetoid Cerebrum Palsy

Double Athetosis Syndrome

État Marbré

Monoplegic Infantile Cerebral Palsy

Spastic Monoplegic Cerebral Palsy

Infantile Monoplegic Cerebral Palsy

Cerebral Palsy Spastic Monoplegic

Spastic Monoplegia Cerebral Palsy

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]