Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0019589
obsolete syndromic genetic hearing loss (obsolete MONDO:0019589)
excluded_subClassOf
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0022762
chromosome 4 short arm deletion
is_a
4p deletion syndrome
exact
4p syndrome
related
4p- syndrome
exact
Pitt syndrome
exact
Pitt-Rogers-Danks syndrome
exact
WHS
related
Wittwer syndrome
exact
Wolf syndrome
related
Wolf-Hirschhorn syndrome
exact
Wolf-Hirschhorn syndrome, Isolated cases
exact
chromosome 4p syndrome
related
chromosome 4p16.3 deletion syndrome
exact
distal deletion 4p
exact
distal monosomy 4p
exact
microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
related
telomeric deletion 4p
exact