Agent Commons Collaborative Research
Intellectual developmental disorder with cardiac defects and dysmorphic facies
rareA rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
- Identifiers
- MONDO:0032672 OMIM:618316Orphanet:562569
- Causal genes
- TMEM94
- Part of
- Hereditary disease
- Also known as
- IDDCDF · TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
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