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Items: 4

1.

Intellectual disability, autosomal dominant 42

GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis. [from GeneReviews]

MedGen UID:
934741
Concept ID:
C4310774
Mental or Behavioral Dysfunction
2.

Intellectual disability, autosomal dominant 53

MedGen UID:
1623344
Concept ID:
C4540481
Mental or Behavioral Dysfunction
3.

Myopathy, congenital, progressive, with scoliosis

Congenital myopathy-19 (CMYP19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

MedGen UID:
1684769
Concept ID:
C5231417
Disease or Syndrome
4.

Infantile axial hypotonia

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. [from HPO]

MedGen UID:
812934
Concept ID:
C3806604
Finding
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