Rare Disease Intelligence

Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 8 more sources. Updated daily.

10,888+ diseases

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intellectual disability, autosomal recessive 5

MONDO:0012613

Intellectual disability, autosomal recessive 5 is a neurodevelopmental condition caused by pathogenic variants in the NSUN2 gene. It is characterized...

NSUN2

intellectual disability, autosomal recessive 50

MONDO:0014649

Rare

EDC3

intellectual disability, autosomal recessive 51

MONDO:0014759

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HNMT

intellectual disability, autosomal recessive 52

MONDO:0014815

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LMAN2L

intellectual disability, autosomal recessive 53

MONDO:0014832

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1 Trials

PIGG

intellectual disability, autosomal recessive 54

MONDO:0014876

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TNIK

intellectual disability, autosomal recessive 56

MONDO:0014930

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ZC3H14

intellectual disability, autosomal recessive 57

MONDO:0014962

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MBOAT7

intellectual disability, autosomal recessive 58

MONDO:0014996

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ELP2

intellectual disability, autosomal recessive 59

MONDO:0015020

Rare

IMPA1

intellectual disability, autosomal recessive 6

MONDO:0012614

Rare

2 Trials

Intellectual disability, autosomal recessive 6 is a neurodevelopmental condition caused by pathogenic variants in the GRIK2 gene. It is characterized...

GRIK2

intellectual disability, autosomal recessive 60

MONDO:0044313

Rare

Intellectual disability, autosomal recessive 60 is a genetic condition that primarily affects neurological and developmental functioning. It is associ...

TAF13

intellectual disability, autosomal recessive 61

MONDO:0030915

Rare

Intellectual disability, autosomal recessive 61 is a neurologically focused condition primarily characterized by cognitive challenges and developmenta...

RUSC2

intellectual disability, autosomal recessive 63

MONDO:0054861

Rare

CAMK2A

intellectual disability, autosomal recessive 64

MONDO:0020846

Rare

Intellectual disability, autosomal recessive 64 is a neurodevelopmental condition characterized by severe intellectual disability, global developmenta...

LINGO1

intellectual disability, autosomal recessive 65

MONDO:0020850

Rare

KDM5B

intellectual disability, autosomal recessive 66

MONDO:0032605

Rare

Intellectual disability, autosomal recessive 66 is a neurodevelopmental condition that primarily affects cognitive development, adaptive functioning,...

FERRY3

intellectual disability, autosomal recessive 7

MONDO:0012615

Rare

Intellectual disability, autosomal recessive 7 is a neurodevelopmental condition that primarily affects cognitive functioning and overall development....

TUSC3

intellectual disability, autosomal recessive 9

MONDO:0012617

Rare

intellectual disability-balding-patella luxation-acromicria syndrome

MONDO:0010505

Rare

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