primary autosomal recessive microcephaly
ORPHA: 2512
Overview
primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation
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 primary autosomal recessive microcephaly, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionMicrocephalySloping foreheadUpslanted palpebral fissureGlobal developmental delayGrowth delayGray matter heterotopiaShort statureSevere intellectual disabilityVesicoureteral refluxUnilateral renal agenesisAgenesis of corpus callosumPachygyriaHyperreflexiaVentriculomegalyAbnormal cortical bone morphologyHypoplasia of the frontal lobes
Classification & Codes
Orphanet Code
ORPHA:2512primary autosomal recessive microcephaly
| Orphanet | ORPHA:2512 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO