U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

1.

Hao-Fountain syndrome due to USP7 mutation

MedGen UID:
1853151
Concept ID:
C5816734
Disease or Syndrome
2.

Intellectual developmental disorder, autosomal dominant 73

Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022). [from OMIM]

MedGen UID:
1841272
Concept ID:
C5830636
Mental or Behavioral Dysfunction
3.

Premature adrenarche

Onset of adrenarche at an earlier age than usual. [from HPO]

MedGen UID:
137972
Concept ID:
C0342546
Disease or Syndrome
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity