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Grubben-de Cock-Borghgraef syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Grubben-de Cock-Borghgraef syndrome
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Accession:EFO:MONDO:0009313 term browser browse the term
Definition:Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.
Synonyms:exact_synonym: Orphanet:2101;   developmental delay-hypotonia-extremities hypertrophy syndrome;   http://identifiers.org/medgen/419108;   http://identifiers.org/mesh/C537621;   http://linkedlifedata.com/resource/umls/id/C2931551;   https://omim.org/entry/233810
 related_synonym: developmental delay - hypotonia - extremities hypertrophy;   growth retardation, small and puffy hands and feet, and eczema;   severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
 alt_id: MONDO:0009313
 xref: GARD:2576;   MEDGEN:419108;   MESH:C537621;   MIM:233810;   ORDO:2101;   UMLS:C2931551
 see_also: https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome" xsd:anyURI {source="GARD:0002576

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