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Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities(NEDFBA)

MedGen UID:
1852093
Concept ID:
C5882684
Disease or Syndrome
Synonym: NEDFBA
 
Gene (location): SRSF1 (17q22)
 
Monarch Initiative: MONDO:0957583
OMIM®: 620489

Definition

Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023). [from OMIM]

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