OBO ID: DOID:0111789
Term Name: Frank-Ter Haar syndrome Search Ontology:
Synonyms:
  • autosomal recessive Melnick-Needles syndrome
  • Borrone dermatocardioskeletal syndrome
  • FTHS
  • megalocornea, multiple skeletal anomalies, and developmental delay
  • Ter Haar syndrome
Definition: An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1. (2)
References:
Ontology: Human Disease   (DOID:0111789)
OTHER Frank-Ter Haar syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SH3PXD2B Frank-ter Haar syndrome 249420
ZEBRAFISH MODELS
Fish Conditions Citations
sh3pxd2bzf3422/zf3422 (AB) standard conditions de Vos et al., 2020
PHENOTYPE No data available

CITATIONS (1)