Rare intellectual disability

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Rare intellectual disability

ORPHA:87277Category

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

ACTL6AACTL6BADGRL1AGO1AGO2AP1G1ATP2B1ATP6V0A1ATP9ABAP1BCORL1BRWD3CACNA1CCAPRIN1CCDC32CDK8CERT1CHD5CLCN3CNOT1CNOT3CPSF3CSNK2A1CTR9DDX6DLG4DOCK3DOHHDPYSL5EEF1A2EIF4A2EIF5AEMC10FAM50AFBXO11FBXW11FBXW7GNB2GRIA4GRIK2HNRNPCHS2ST1HTTHUWE1JARID2KAT8KDM2BKDM4BKDM6BKMT2BKMT2ELMBRD2MADDMAN2C1MAPK8IP3MARK2MED12LMED13MSL2MTSS2MYCBP2NAA15NCKAP1NOVA2NRCAMNTNG1NTNG2OTUD5PAK3PALS1PCDHGC4PGM2L1PLXNA1PRPF8PSMD12PTPN23PUS7RAC3RALARLIMRNF2RORASCAF4SETD1ASETD5SIAH1SPTBN1SRCAPSVBPSYNCRIPTAF4TANC2TBR1TCF20TCF7L2TIAM1TMEM222TNRC6BTRAPPC4TRIP12TRMT1UBR7UPF1WARS1WASF1WDFY3XPO1ZMIZ1ZMYM2ZNF142ZNF292ZNF526ZNF699

Orphanet records these genes on 1 more specific entry under this disorder, not on this entry itself:

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 19491UMLS C5681429

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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