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facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Disease Summary
Associated Targets (1)
Tbio

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Uniprot Description An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies.
Mondo Term and Equivalent IDs
MONDO:0014741:  facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Orphanet:466950: 
UMLS:C4225239: 
UMLS:CN242167: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found