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10,888+ diseases

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Showing 9,361-9,380 of 10,888 diseases

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

MONDO:0044318

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PPM1D

intellectual developmental disorder with impaired language and dysmorphic facies

MONDO:0032851

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DDX6

intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism

MONDO:0859257

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NR4A2

intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

MONDO:0014376

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Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism is a neurodevelopmenta...

SOX11

intellectual developmental disorder with seizures and language delay

MONDO:0033559

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SETD1B

intellectual developmental disorder with severe speech and ambulation defects

MONDO:0032770

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ACTL6B

intellectual developmental disorder with short stature and behavioral abnormalities

MONDO:0032870

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1 Trials

IQSEC1

intellectual developmental disorder with speech delay and axonal peripheral neuropathy

MONDO:0030849

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NEMF

intellectual developmental disorder with speech delay, autism, and dysmorphic facies

MONDO:0032864

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CNOT3

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

MONDO:0060763

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Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities is a neurodevelopmental condition that primarily af...

BCL11B

intellectual developmental disorder, X-linked 108

MONDO:0026723

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SLC9A7

intellectual developmental disorder, X-linked 110

MONDO:0859086

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Intellectual developmental disorder, X-linked 110 is a neurodevelopmental condition that primarily affects the nervous system, with severe intellectua...

FGF13

intellectual developmental disorder, X-linked 111

MONDO:0957203

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SLITRK2

intellectual developmental disorder, X-linked 112

MONDO:0957496

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ZMYM3

intellectual developmental disorder, X-linked 113

MONDO:0958200

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CSTF2

intellectual developmental disorder, X-linked 114

MONDO:0975828

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SRPK3

intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type

MONDO:0026733

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NKAP

intellectual developmental disorder, X-linked, syndromic, Pilorge type

MONDO:0024772

Rare

Intellectual developmental disorder, X-linked, syndromic, Pilorge type is a neurodevelopmental condition primarily affecting individuals assigned male...

GLRA2

intellectual developmental disorder, autosomal dominant 63, with macrocephaly

MONDO:0032939

Rare

Intellectual developmental disorder, autosomal dominant 63, with macrocephaly is a neurodevelopmental condition that primarily affects cognitive and m...

TRIO

intellectual developmental disorder, autosomal dominant 64

MONDO:0030934

Rare

1 Trials

Intellectual developmental disorder, autosomal dominant 64 is a neurodevelopmental condition that primarily affects cognitive and language development...

ZNF292

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