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1.

Developmental delay, impaired speech, and behavioral abnormalities

Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021). [from OMIM]

MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
2.

Isometric tremor

An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). [from HPO]

MedGen UID:
868202
Concept ID:
C4022594
Finding

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