X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) DEPRECATED
X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese
X-gebonden syndroom van mentale retardatie, agenesie van corpus callosum en spastische tetraparese
X-gebonden syndroom van verstandelijke handicap, agenesie van corpus callosum en spastische quadriparese
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome
This syndrome has characteristics of intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.
Id719137001
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2020-07-31)