Intellectual disability, autosomal dominant

Identifiers: MONDO:0100172
Part of: Mendelian neurodevelopmental disorder Autosomal dominant disease Intellectual disability
Also known as: autosomal dominant intellectual disability

Subtypes

Disease	ID	Subtypes	Genes
Autosomal dominant syndromic intellectual disability	MONDO:0100601	48
Autosomal dominant non-syndromic intellectual disability	MONDO:0015802	22
Koolen-de Vries syndrome	MONDO:0012496	2	KANSL1
Kleefstra syndrome 1	MONDO:0027407	1	EHMT1
Kleefstra syndrome 2	MONDO:0054701		KMT2C
Intellectual developmental disorder, autosomal dominant 64	MONDO:0030934		ZNF292
Intellectual developmental disorder, autosomal dominant 65	MONDO:0023657		KDM4B
Intellectual developmental disorder, autosomal dominant 66	MONDO:0030891		ATP2B1
Intellectual developmental disorder, autosomal dominant 67	MONDO:0030964		GRIA1
Intellectual developmental disorder, autosomal dominant 68	MONDO:0030969		KMT2B
Intellectual developmental disorder, autosomal dominant 69	MONDO:0029465
Intellectual developmental disorder, autosomal dominant 70	MONDO:0859333
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	MONDO:0957228		RFX7
Intellectual developmental disorder, autosomal dominant 72	MONDO:0957397		SRRM2
Intellectual developmental disorder, autosomal dominant 74	MONDO:0958203
Intellectual developmental disorder, autosomal dominant 75	MONDO:0975838		DHX9
Intellectual developmental disorder, autosomal dominant 76	MONDO:0979575		MARK2
Intellectual disability, FRA12A type	MONDO:0007634		DIP2B
Intellectual disability, autosomal dominant 1	MONDO:0007974		MBD5
Intellectual disability, autosomal dominant 10	MONDO:0013657		CACNG2
Intellectual disability, autosomal dominant 11	MONDO:0013658		EPB41L1
Intellectual disability, autosomal dominant 2	MONDO:0013581		DOCK8
Intellectual disability, autosomal dominant 24	MONDO:0014357
Intellectual disability, autosomal dominant 3	MONDO:0012946		CDH15
Intellectual disability, autosomal dominant 38	MONDO:0014617		EEF1A2
Intellectual disability, autosomal dominant 39	MONDO:0014678		MYT1L
Intellectual disability, autosomal dominant 4	MONDO:0012947
Intellectual disability, autosomal dominant 40	MONDO:0014699		CHAMP1
Intellectual disability, autosomal dominant 42	MONDO:0014855		GNB1
Intellectual disability, autosomal dominant 5	MONDO:0012960		SYNGAP1
Intellectual disability, autosomal dominant 52	MONDO:0030918		ASH1L
Intellectual disability, autosomal dominant 6	MONDO:0013509
Intellectual disability, autosomal dominant 9	MONDO:0013656		KIF1A
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	MONDO:0014336		SETD5
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	MONDO:0013655

Rare disease

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