Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

Alias:

Sanjad-Sakati Syndrome

Hrd Syndrome

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Richardson-Kirk Syndrome

Hrds

Sss

Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay

Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures

Hypoparathyroidism with Short Stature, Mental Retardation and Seizures

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome, is related to kenny-caffey syndrome, type 1 and hypoparathyroidism, and has symptoms including seizures An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Chaperonin-mediated protein folding. Affiliated tissues include eye and pituitary, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：HYP134

OMIM：241410

MESH：C537157