A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
This is just here as a test because I lose it
Term information
database cross reference
- MeSH:C536438 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10049066 (E (Exact mapping: the two concepts are equivalent))
- OMIM:216550 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0265223 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q87.8 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- ICD-10:Q87.8 (Attributed (The ICD10 code is attributed by Orphanet))
Term relations
Subclass of:
- malformation syndrome
- part_of some Syndromic obesity
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- present_in some Worldwide and has_cases/families_value value 200.0
- part_of some Rare genetic syndromic intellectual disability
- part_of some Constitutional neutropenia with extra-hematopoietic manifestations
- has_inheritance some autosomal recessive
- part_of some Rare syndromic intellectual disability
- has_age_of_onset some infancy
- part_of some Syndromic rod-cone dystrophy
- has_age_of_onset some neonatal
- part_of some Multiple congenital anomalies/dysmorphic syndrome-intellectual disability