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Macrocephaly-short stature-paraplegia syndrome
rareMacrocephaly-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.
- Identifiers
- MONDO:0016571 Orphanet:2427
- Part of
- Central nervous system malformationCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations · Volcke Soekarman syndrome · Volcke-Soekarman syndrome
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