U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

1.

Intellectual disability, autosomal dominant 15

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). [from OMIM]

MedGen UID:
766162
Concept ID:
C3553248
Disease or Syndrome
2.

Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017). [from OMIM]

MedGen UID:
1385744
Concept ID:
C4479517
Disease or Syndrome
3.

Central diaphragmatic hernia

A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. [from HPO]

MedGen UID:
1369533
Concept ID:
C4476646
Congenital Abnormality
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...