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Metadata
ID DOID:14796
Name Dubowitz syndrome
Definition A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
http://en.wikipedia.org/wiki/Dubowitz_syndrome
Xrefs

GARD:6290

ICD10CM:Q87.19

MESH:C535718

MIM:223370

NCI:C125591

SNOMEDCT_US_2023_03_01:2593002

UMLS_CUI:C0175691

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Dubowitz's syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has symptom some ptosis

has material basis in some autosomal recessive inheritance

has phenotype some Growth delay

has phenotype some Retrognathia

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