Syndrome

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Syndrome with microcephaly as a major feature

ORPHA:269528Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ARPC4BCAS3C2CD3COPB1EMG1FOXL2H4C3H4C5H4C9KIF11KIF14MED17NDE1QARS1RAB18RAB3GAP1RAB3GAP2RBBP8SLC25A19SMPD4SPOPSTAMBPTBC1D20WDR45BYIF1B

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Amish lethal microcephalyBlepharophimosis-ptosis-epicanthus inversus syndrome plusBowen-Conradi syndromeCongenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndromeDevelopmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndromeDiffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndromeGlobal developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndromeGlobal developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndromeInfantile cerebral and cerebellar atrophy with postnatal progressive microcephalyIntellectual disability-early-onset cataract-microcephaly syndromeJawad syndromeLethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndromeMicrocephaly-capillary malformation syndromeMicrocephaly-chorioretinopathy-lymphedema syndromeMicrocephaly-hearing loss-facial dysmorphism-intellectual disability syndromeMicro syndromeMotor delay-microcephaly-speech impairment-ocular abnormalities syndromeNDE1-related microhydranencephalyNeurodevelopmental disorder-spasticity-movement disorder-epileptic syndromeOrofaciodigital syndrome type 14

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 17119UMLS C5680774

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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