macrocephaly-short stature-paraplegia syndrome
Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.
MONDO:0002254
syndromic disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020022
central nervous system malformation
is_a
Volcke Soekarman syndrome
exact
Volcke-Soekarman syndrome
exact
macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations
exact