Sanjad–Sakati syndrome

Also known as: Hypoparathyroidism, retardation and dysmorphism

Recessive hypoparathyroidism with growth failure and dysmorphism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, Arab populations
Gene(s) involved: TBCE

Etiology & mechanism

TBCE variants.

Gene(s) involved (1)

TBCE

Symptoms & signs (6)

deep-set eyesgrowth failurehypocalcemiaintellectual disabilitymicrocephalyseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.