OBO ID: DOID:0060348
Term Name: hypoparathyroidism-retardation-dysmorphism syndrome Search Ontology:
Synonyms:
  • HRD syndrome
  • hypoparathyroidism with short stature, mental retardation and seizures
  • Sanjad-Sakati syndrome
Definition: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3. (2)
References:
Ontology: Human Disease   (DOID:0060348)
OTHER hypoparathyroidism-retardation-dysmorphism syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBCE Hypoparathyroidism-retardation-dysmorphism syndrome 241410
PHENOTYPE No data available

CITATIONS (1)