VAC14 - VAC14 component of PIKFYVE complex Gene

Lenk-Ploski Syndrome

SNDC

Childhood-Onset Basal Ganglia Degeneration Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Yunis Varon Syndrome

YVS

Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

Yunis-Varón Syndrome

Charcot-Marie-Tooth Disease Type 4j

CMT4J

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Typhoid

Enteric Fever

Typhoidal Salmonellosis

Ileotyphus

Infection By Salmonella Typhi

Typhoid Any Site

Typhoid Fever Any Site

Typhoid Infection

Typhoid Infection Any Site

Typhoid Fever Confirmed

Enteric Fever Nos

Mental Retardation, X-Linked, Syndromic, Hedera Type

Mrxe

Mrxsh

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

Mucolipidosis Type Iv

ML4

Sialolipidosis

Mucolipidosis Type 4

Ganglioside Sialidase Deficiency

Mliv

Ml Iv

Berman Syndrome

Ganglioside Neuraminidase Deficiency

Ml 4

Mucolipidosis 4

Type Iv Mucolipidosis

Gangliosidoses

Lown-Ganong-Levine Syndrome

Syndrome Of Short P-R Interval, Normal Qrs Complexes, And Supraventricular Tachycardias

Lgl Syndrome

Charcot-Marie-Tooth Disease Type 4b1

CMT4B1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Ataxia With Isolated Vitamin E Deficiency

AVED

Familial Isolated Vitamin E Deficiency

Friedreich-Like Ataxia

Familial Isolated Deficiency Of Vitamin E

Isolated Vitamin E Deficiency

Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency

Vitamin E Deficiency, Familial Isolated

Ved

Friedreich-Like Ataxia With Selective Vitamin E Deficiency

Five

Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency

Vitamin E Familial Isolated, Deficiency Of

Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies