UBA5 - ubiquitin like modifier activating enzyme 5 Gene

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

DEE44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Developmental And Epileptic Encephalopathy, 44

Early Infantile Epileptic Encephalopathy 44

Encephalopathy, Epileptic, Early Infantile, Type 44

Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

SCAR21

Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy

Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome

Calfan

Autosomal Recessive Spinocerebellar Ataxia 21

Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy

Autosomal Recessive Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia, Autosomal Recessive, 21

Calfan Syndrome

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type

MGORS8

DFNA70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Deafness 70

Deafness, Autosomal Dominant, 70

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Congenital Neurologic Anomaly

Congenital Nervous System Disorder