TBCB - tubulin folding cofactor B Gene

Kenny Syndrome

Sanjad-Sakati Syndrome

Hrd Syndrome

HRDS

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

Richardson-Kirk Syndrome

Sss

Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

HMN8

Dhmn8

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy With Contractures

Congenital Nonprogressive Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Spinal Muscular Atrophy, Congenital Benign, With Contractures

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Spinal Muscular Atrophy Congenital Benign With Contractures

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2