syndromic intellectual disability syndromic disease Grubben-de Cock-Borghgraef syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome https://www.malacards.org/card/growth_retardation_small_and_puffy_hands_and_feet_and_eczema https://www.malacards.org/card/grubben_de_cock_borghgraef_syndrome_2 GARD:0002576 Grubben de Cock Borghgraef syndrome MEDGEN:419108 MESH:C537621 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. UMLS:C2931551 OMIM:233810 severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin developmental delay - hypotonia - extremities hypertrophy MONDO:0009313 developmental delay-hypotonia-extremities hypertrophy syndrome Orphanet:2101