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Items: 3

1.

MORM syndrome

Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (Hampshire et al., 2006). [from OMIM]

MedGen UID:
341851
Concept ID:
C1857802
Disease or Syndrome
2.

Childhood-onset truncal obesity

Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. [from HPO]

MedGen UID:
348475
Concept ID:
C1859846
Finding
3.

Cohen syndrome

Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features. [from GeneReviews]

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality

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