You are using an outdated browser. Please upgrade your browser to improve your experience.

cardiac anomalies - developmental delay - facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal dominant, syndromic form of mental retardation characterized by delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Mondo Term and Equivalent IDs
MONDO:0014773:  cardiac anomalies - developmental delay - facial dysmorphism syndrome
GARD:0012999: 
Orphanet:369891: 
UMLS:C4225208: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

2250

Tchem

535

Tdark

340

Tclin

240

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

47

Tchem

9

Tclin

4

Tdark

1

Children
Target Novelty (Tin-x)
No novelty measurements found