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1.

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019). [from OMIM]

MedGen UID:
1684818
Concept ID:
C5231423
Disease or Syndrome
2.

Frog-leg posture

A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. [from HPO]

MedGen UID:
1381204
Concept ID:
C4476998
Finding

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