Phelan-McDermid syndrome
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
MONDO:0022760
chromosome 22q deletion
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
22q13 deletion
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22q13.3 deletion syndrome
related
PHMDS
exact
Phelan McDermid syndrome
exact
Phelan-McDermid syndrome
exact
deletion 22q13.3 syndrome
related
monosomy 22q13
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monosomy type 22q13
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