Frank-Ter Haar syndrome
Ontology Term:
Status:
Live
Synonym:
Borrone dermatocardioskeletal syndrome
FTHS
Ter Haar syndrome
autosomal recessive Melnick-Needles syndrome
megalocornea, multiple skeletal anomalies, and developmental delay
FTHS
Ter Haar syndrome
autosomal recessive Melnick-Needles syndrome
megalocornea, multiple skeletal anomalies, and developmental delay
Type:
Mapping to OMIM ID:
Comparative Info:
Learn more about this disease from studies in other model systems at the 
WormBase ID:
DOID:0111789
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 the SH3PXD2B gene on chromosome 5q35.1.
Child:
Associations based on experimental data:
Disease relevant gene:
Automatic gene association:
1 Inferred automatically: Inferred by orthology to human genes with OMIM annotation
