Grubben-de Cock-Borghgraef syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Grubben de Cock Borghgraef syndrome
related
developmental delay - hypotonia - extremities hypertrophy
related
developmental delay-hypotonia-extremities hypertrophy syndrome
exact
severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
related