/congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Rare Disease

MONDO:0044302

Also Known As

CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndromeCHDFIDDcongenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

CDK13 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617360 ↗

Orphanet

Orphanet:646278 ↗

Related Diseases

inherited bleeding disorder, platelet-type

MONDO:0000009

Rare

infantile liver failure

MONDO:0000023

Rare

febrile seizures, familial

MONDO:0000032

hereditary hypophosphatemic rickets

MONDO:0000044

Rare

hypothyroidism, congenital, nongoitrous

MONDO:0000045

Rare

isolated microphthalmia

MONDO:0000062

← Back to All Diseases