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Items: 2

1.

Hirschsprung disease-mental retardation syndrome, late infantile

MedGen UID:
865386
Concept ID:
C4016949
Finding
2.

Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is characterized by the following: Distinctive facial features. Structural anomalies including: Hirschsprung disease. Genitourinary anomalies (particularly hypospadias in males). Congenital heart defects (particularly abnormalities of the pulmonary arteries and/or valves). Agenesis or hypogenesis of the corpus callosum. Eye defects (microphthalmia and Axenfeld anomaly). Functional differences including: Moderate to severe intellectual disability. Severe speech impairment with relative preservation of receptive language. Seizures. Growth retardation with microcephaly. Chronic constipation in those without Hirschsprung disease. [from GeneReviews]

MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome

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