mental retardation and microcephaly with pontine and cerebellar hypoplasia
MeSH: C567466ORPHA: 163937
Overview
rare X-linked dominant genetic disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia, sourced from HPO and Orphanet clinical annotations.
Optic nerve hypoplasiaOptic atrophyAutistic behaviorSpasticityAbsent speechFailure to thriveRigidityUnsteady gaitScoliosisProportionate short statureDyskinesiaProgressive microcephalyCerebellar hypoplasiaModerate intellectual disabilitySevere global developmental delayHypoplasia of the ponsMicrocephalyRetrognathiaHypertelorismBroad foreheadLong philtrumMicrognathiaMacrotiaSensorineural hearing impairmentWide nasal bridgeBroad nasal tipStrabismusVisual impairmentMyopiaNystagmusSeizureGait disturbanceDystoniaCerebral cortical atrophySleep disturbanceHighly arched eyebrowShort noseFeeding difficulties in infancyAxial hypotoniaFloppy infantEpileptic spasmStereotypical hand wringingMyoclonic seizureAppendicular spasticityEpileptic encephalopathyOptic disc pallor
Classification & Codes
MeSH Code
C567466Orphanet Code
ORPHA:163937mental retardation and microcephaly with pontine and cerebellar hypoplasia
| MeSH | C567466 |
| Orphanet | ORPHA:163937 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO