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craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies.
Mondo Term and Equivalent IDs
MONDO:0014824:  craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Orphanet:459061: 
UMLS:C4310801: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found