chromosome 19q13.11 deletion syndrome
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016917
partial deletion of the long arm of chromosome 19
is_a
19q13.11 microdeletion syndrome
exact
Del(19)(q13.11)
exact
monosomy 19q13.11
exact