Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Neurodevelopmental abnormality (HP:0012759)

..Starting node
..Specific learning disability (HP:0001328)

Term ID:

1328

Name:

Specific learning disability

Synonym:

Definition:

Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

Comments:

Reference:

HP:0001328

Genes and Diseases:

Child Nodes:

........

Dyscalculia (HP:0002442)

........

Dyslexia (HP:0010522)

........

Impaired visuospatial constructive cognition (HP:0010794)

Sister Nodes:

Developmental regression (HP:0002376)

Developmental stagnation (HP:0007281)

Intellectual disability (HP:0001249)

Neurodevelopmental delay (HP:0012758)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001328	HP:0001328	Specific learning disability	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040282 - Frequent	135
HP:0001328	HP:0001328	Specific learning disability	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0001328	HP:0001328	Specific learning disability	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0001328	HP:0001328	Specific learning disability	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0001328	HP:0001328	Specific learning disability	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0001328	HP:0001328	Specific learning disability	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001328	HP:0001328	Specific learning disability	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0001328	HP:0001328	Specific learning disability	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0001328	HP:0001328	Specific learning disability	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0001328	HP:0001328	Specific learning disability	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0001328	HP:0001328	Specific learning disability	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0001328	HP:0001328	Specific learning disability	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001328	HP:0001328	Specific learning disability	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0001328	HP:0001328	Specific learning disability	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0001328	HP:0001328	Specific learning disability	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0001328	HP:0001328	Specific learning disability	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0001328	HP:0001328	Specific learning disability	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0001328	HP:0001328	Specific learning disability	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0001328	HP:0001328	Specific learning disability	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001328	HP:0001328	Specific learning disability	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0001328	HP:0001328	Specific learning disability	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0001328	HP:0001328	Specific learning disability	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0001328	HP:0001328	Specific learning disability	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0001328	HP:0001328	Specific learning disability	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia		56
HP:0001328	HP:0001328	Specific learning disability	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001328	HP:0001328	Specific learning disability	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0001328	HP:0001328	Specific learning disability	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0001328	HP:0001328	Specific learning disability	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0001328	HP:0001328	Specific learning disability	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0001328	HP:0001328	Specific learning disability	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0001328	HP:0001328	Specific learning disability	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0001328	HP:0001328	Specific learning disability	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0001328	HP:0001328	Specific learning disability	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0001328	HP:0001328	Specific learning disability	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0001328	HP:0001328	Specific learning disability	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0001328	HP:0001328	Specific learning disability	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0001328	HP:0001328	Specific learning disability	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0001328	HP:0001328	Specific learning disability	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0001328	HP:0001328	Specific learning disability	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0001328	HP:0001328	Specific learning disability	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia		42
HP:0001328	HP:0001328	Specific learning disability	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0001328	HP:0001328	Specific learning disability	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0001328	HP:0001328	Specific learning disability	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0001328	HP:0001328	Specific learning disability	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0001328	HP:0001328	Specific learning disability	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0001328	HP:0001328	Specific learning disability	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0001328	HP:0001328	Specific learning disability	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0001328	HP:0001328	Specific learning disability	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0001328	HP:0001328	Specific learning disability	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0001328	HP:0001328	Specific learning disability	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001328	HP:0001328	Specific learning disability	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0001328	HP:0001328	Specific learning disability	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001328	HP:0001328	Specific learning disability	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0001328	HP:0001328	Specific learning disability	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0001328	HP:0001328	Specific learning disability	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	36
HP:0001328	HP:0001328	Specific learning disability	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0001328	HP:0001328	Specific learning disability	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0001328	HP:0001328	Specific learning disability	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0001328	HP:0001328	Specific learning disability	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0001328	HP:0001328	Specific learning disability	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0001328	HP:0001328	Specific learning disability	0	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1		27
HP:0001328	HP:0001328	Specific learning disability	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001328	HP:0001328	Specific learning disability	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	2
HP:0001328	HP:0001328	Specific learning disability	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040282 - Frequent	144
HP:0001328	HP:0001328	Specific learning disability	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0001328	HP:0001328	Specific learning disability	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0001328	HP:0001328	Specific learning disability	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0001328	HP:0001328	Specific learning disability	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001328	HP:0001328	Specific learning disability	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0001328	HP:0001328	Specific learning disability	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001328	HP:0001328	Specific learning disability	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001328	HP:0001328	Specific learning disability	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0001328	HP:0001328	Specific learning disability	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0001328	HP:0001328	Specific learning disability	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0001328	HP:0001328	Specific learning disability	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0001328	HP:0001328	Specific learning disability	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0001328	HP:0001328	Specific learning disability	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0001328	HP:0001328	Specific learning disability	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040283 - Occasional	90
HP:0001328	HP:0001328	Specific learning disability	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040282 - Frequent	30
HP:0001328	HP:0001328	Specific learning disability	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0001328	HP:0001328	Specific learning disability	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0001328	HP:0001328	Specific learning disability	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001328	HP:0001328	Specific learning disability	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0001328	HP:0001328	Specific learning disability	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0001328	HP:0001328	Specific learning disability	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0001328	HP:0001328	Specific learning disability	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0001328	HP:0001328	Specific learning disability	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0001328	HP:0001328	Specific learning disability	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	139
HP:0001328	HP:0001328	Specific learning disability	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0001328	HP:0001328	Specific learning disability	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency		2
HP:0001328	HP:0001328	Specific learning disability	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0001328	HP:0001328	Specific learning disability	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040283 - Occasional	37
HP:0001328	HP:0001328	Specific learning disability	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0001328	HP:0001328	Specific learning disability	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0001328	HP:0001328	Specific learning disability	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0001328	HP:0001328	Specific learning disability	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0001328	HP:0001328	Specific learning disability	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0001328	HP:0001328	Specific learning disability	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent	56
HP:0001328	HP:0001328	Specific learning disability	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0001328	HP:0001328	Specific learning disability	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0001328	HP:0001328	Specific learning disability	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0001328	HP:0001328	Specific learning disability	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001328	HP:0001328	Specific learning disability	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040282 - Frequent	30
HP:0001328	HP:0001328	Specific learning disability	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent	434
HP:0001328	HP:0001328	Specific learning disability	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	434
HP:0001328	HP:0001328	Specific learning disability	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	434
HP:0001328	HP:0001328	Specific learning disability	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0001328	HP:0001328	Specific learning disability	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia		126
HP:0001328	HP:0001328	Specific learning disability	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0001328	HP:0001328	Specific learning disability	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare	73
HP:0001328	HP:0001328	Specific learning disability	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0001328	HP:0001328	Specific learning disability	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040283 - Occasional	37
HP:0001328	HP:0001328	Specific learning disability	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001328	HP:0001328	Specific learning disability	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0001328	HP:0001328	Specific learning disability	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0001328	HP:0001328	Specific learning disability	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0001328	HP:0001328	Specific learning disability	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0001328	HP:0001328	Specific learning disability	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0001328	HP:0001328	Specific learning disability	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0001328	HP:0001328	Specific learning disability	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0001328	HP:0001328	Specific learning disability	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0001328	HP:0001328	Specific learning disability	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0001328	HP:0001328	Specific learning disability	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040283 - Occasional	99
HP:0001328	HP:0001328	Specific learning disability	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0001328	HP:0001328	Specific learning disability	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001328	HP:0001328	Specific learning disability	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0001328	HP:0001328	Specific learning disability	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0001328	HP:0001328	Specific learning disability	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0001328	HP:0001328	Specific learning disability	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0001328	HP:0001328	Specific learning disability	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	HP:0040283 - Occasional	193
HP:0001328	HP:0001328	Specific learning disability	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0001328	HP:0001328	Specific learning disability	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0001328	HP:0001328	Specific learning disability	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent	46
HP:0001328	HP:0001328	Specific learning disability	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0001328	HP:0001328	Specific learning disability	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0001328	HP:0001328	Specific learning disability	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0001328	HP:0001328	Specific learning disability	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040283 - Occasional	8
HP:0001328	HP:0001328	Specific learning disability	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	68
HP:0001328	HP:0001328	Specific learning disability	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001328	HP:0001328	Specific learning disability	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0001328	HP:0001328	Specific learning disability	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001328	HP:0001328	Specific learning disability	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0001328	HP:0001328	Specific learning disability	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001328	HP:0001328	Specific learning disability	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0001328	HP:0001328	Specific learning disability	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0001328	HP:0001328	Specific learning disability	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0001328	HP:0001328	Specific learning disability	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040281 - Very frequent	136
HP:0001328	HP:0001328	Specific learning disability	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001328	HP:0001328	Specific learning disability	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0001328	HP:0001328	Specific learning disability	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0001328	HP:0001328	Specific learning disability	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome		140
HP:0001328	HP:0001328	Specific learning disability	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia		140
HP:0001328	HP:0001328	Specific learning disability	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent	22
HP:0001328	HP:0001328	Specific learning disability	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0001328	HP:0001328	Specific learning disability	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001328	HP:0001328	Specific learning disability	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0001328	HP:0001328	Specific learning disability	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001328	HP:0001328	Specific learning disability	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001328	HP:0001328	Specific learning disability	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0001328	HP:0001328	Specific learning disability	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0001328	HP:0001328	Specific learning disability	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001328	HP:0001328	Specific learning disability	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent	68
HP:0001328	HP:0001328	Specific learning disability	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0001328	HP:0001328	Specific learning disability	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0001328	HP:0001328	Specific learning disability	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent	35
HP:0001328	HP:0001328	Specific learning disability	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0001328	HP:0001328	Specific learning disability	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0001328	HP:0001328	Specific learning disability	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0001328	HP:0001328	Specific learning disability	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0001328	HP:0001328	Specific learning disability	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001328	HP:0001328	Specific learning disability	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0001328	HP:0001328	Specific learning disability	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001328	HP:0001328	Specific learning disability	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0001328	HP:0001328	Specific learning disability	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0001328	HP:0001328	Specific learning disability	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0001328	HP:0001328	Specific learning disability	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0001328	HP:0001328	Specific learning disability	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0001328	HP:0001328	Specific learning disability	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0001328	HP:0001328	Specific learning disability	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0001328	HP:0001328	Specific learning disability	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0001328	HP:0001328	Specific learning disability	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001328	HP:0001328	Specific learning disability	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent	544
HP:0001328	HP:0001328	Specific learning disability	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001328	HP:0001328	Specific learning disability	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional
HP:0001328	HP:0001328	Specific learning disability	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0001328	HP:0001328	Specific learning disability	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0001328	HP:0001328	Specific learning disability	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0001328	HP:0001328	Specific learning disability	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0001328	HP:0001328	Specific learning disability	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0001328	HP:0001328	Specific learning disability	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0001328	HP:0001328	Specific learning disability	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0001328	HP:0001328	Specific learning disability	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0001328	HP:0001328	Specific learning disability	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0001328	HP:0001328	Specific learning disability	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0001328	HP:0001328	Specific learning disability	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0001328	HP:0001328	Specific learning disability	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0001328	HP:0001328	Specific learning disability	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0001328	HP:0001328	Specific learning disability	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0001328	HP:0001328	Specific learning disability	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0001328	HP:0001328	Specific learning disability	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4		244
HP:0001328	HP:0001328	Specific learning disability	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0001328	HP:0001328	Specific learning disability	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0001328	HP:0001328	Specific learning disability	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0001328	HP:0001328	Specific learning disability	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0001328	HP:0001328	Specific learning disability	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0001328	HP:0001328	Specific learning disability	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent	221
HP:0001328	HP:0001328	Specific learning disability	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0001328	HP:0001328	Specific learning disability	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0001328	HP:0001328	Specific learning disability	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments		2
HP:0001328	HP:0001328	Specific learning disability	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0001328	HP:0001328	Specific learning disability	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent	69
HP:0001328	HP:0001328	Specific learning disability	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional	94
HP:0001328	HP:0001328	Specific learning disability	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0001328	HP:0001328	Specific learning disability	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia		241
HP:0001328	HP:0001328	Specific learning disability	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0001328	HP:0001328	Specific learning disability	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0001328	HP:0001328	Specific learning disability	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0001328	HP:0001328	Specific learning disability	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0001328	HP:0001328	Specific learning disability	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0001328	HP:0001328	Specific learning disability	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0001328	HP:0001328	Specific learning disability	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0001328	HP:0001328	Specific learning disability	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040283 - Occasional	9
HP:0001328	HP:0001328	Specific learning disability	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0001328	HP:0001328	Specific learning disability	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0001328	HP:0001328	Specific learning disability	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0001328	HP:0001328	Specific learning disability	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0001328	HP:0001328	Specific learning disability	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001328	HP:0001328	Specific learning disability	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0001328	HP:0001328	Specific learning disability	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001328	HP:0001328	Specific learning disability	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001328	HP:0001328	Specific learning disability	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent	80
HP:0001328	HP:0001328	Specific learning disability	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001328	HP:0001328	Specific learning disability	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0001328	HP:0001328	Specific learning disability	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0001328	HP:0001328	Specific learning disability	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0001328	HP:0001328	Specific learning disability	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0001328	HP:0001328	Specific learning disability	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0001328	HP:0001328	Specific learning disability	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0001328	HP:0001328	Specific learning disability	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0001328	HP:0001328	Specific learning disability	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0001328	HP:0001328	Specific learning disability	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0001328	HP:0001328	Specific learning disability	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional	255
HP:0001328	HP:0001328	Specific learning disability	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001328	HP:0001328	Specific learning disability	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0001328	HP:0001328	Specific learning disability	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0001328	HP:0001328	Specific learning disability	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0001328	HP:0001328	Specific learning disability	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0001328	HP:0001328	Specific learning disability	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001328	HP:0001328	Specific learning disability	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001328	HP:0001328	Specific learning disability	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0001328	HP:0001328	Specific learning disability	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0001328	HP:0001328	Specific learning disability	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0001328	HP:0001328	Specific learning disability	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0001328	HP:0001328	Specific learning disability	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001328	HP:0001328	Specific learning disability	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent	287
HP:0001328	HP:0001328	Specific learning disability	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001328	HP:0001328	Specific learning disability	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040284 - Very rare	171
HP:0001328	HP:0001328	Specific learning disability	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0001328	HP:0001328	Specific learning disability	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001328	HP:0001328	Specific learning disability	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001328	HP:0001328	Specific learning disability	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0001328	HP:0001328	Specific learning disability	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0001328	HP:0001328	Specific learning disability	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001328	HP:0001328	Specific learning disability	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0001328	HP:0001328	Specific learning disability	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional	50
HP:0001328	HP:0001328	Specific learning disability	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional	50
HP:0001328	HP:0001328	Specific learning disability	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0001328	HP:0001328	Specific learning disability	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0001328	HP:0001328	Specific learning disability	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0001328	HP:0001328	Specific learning disability	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0001328	HP:0001328	Specific learning disability	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0001328	HP:0001328	Specific learning disability	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0001328	HP:0001328	Specific learning disability	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0001328	HP:0001328	Specific learning disability	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0001328	HP:0001328	Specific learning disability	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.	58
HP:0001328	HP:0001328	Specific learning disability	0	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0040281 - Very frequent	58
HP:0001328	HP:0001328	Specific learning disability	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0001328	HP:0001328	Specific learning disability	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0001328	HP:0001328	Specific learning disability	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001328	HP:0001328	Specific learning disability	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0001328	HP:0001328	Specific learning disability	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0001328	HP:0001328	Specific learning disability	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0001328	HP:0001328	Specific learning disability	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0001328	HP:0001328	Specific learning disability	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0001328	HP:0001328	Specific learning disability	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0001328	HP:0001328	Specific learning disability	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0001328	HP:0001328	Specific learning disability	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0001328	HP:0001328	Specific learning disability	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0001328	HP:0001328	Specific learning disability	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0001328	HP:0001328	Specific learning disability	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001328	HP:0001328	Specific learning disability	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0001328	HP:0001328	Specific learning disability	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001328	HP:0001328	Specific learning disability	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0001328	HP:0001328	Specific learning disability	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0001328	HP:0001328	Specific learning disability	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0001328	HP:0001328	Specific learning disability	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia		31
HP:0001328	HP:0001328	Specific learning disability	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001328	HP:0001328	Specific learning disability	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0001328	HP:0001328	Specific learning disability	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0001328	HP:0001328	Specific learning disability	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0001328	HP:0001328	Specific learning disability	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0001328	HP:0001328	Specific learning disability	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.	39
HP:0001328	HP:0001328	Specific learning disability	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0001328	HP:0001328	Specific learning disability	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0001328	HP:0001328	Specific learning disability	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0001328	HP:0001328	Specific learning disability	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0001328	HP:0001328	Specific learning disability	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0001328	HP:0001328	Specific learning disability	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001328	HP:0001328	Specific learning disability	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0001328	HP:0001328	Specific learning disability	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0001328	HP:0001328	Specific learning disability	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0001328	HP:0001328	Specific learning disability	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0001328	HP:0001328	Specific learning disability	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0001328	HP:0001328	Specific learning disability	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0001328	HP:0001328	Specific learning disability	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001328	HP:0001328	Specific learning disability	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0001328	HP:0001328	Specific learning disability	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0001328	HP:0001328	Specific learning disability	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent	5
HP:0001328	HP:0001328	Specific learning disability	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0001328	HP:0001328	Specific learning disability	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0001328	HP:0001328	Specific learning disability	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0001328	HP:0001328	Specific learning disability	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0001328	HP:0001328	Specific learning disability	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0001328	HP:0001328	Specific learning disability	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001328	HP:0010522	Dyslexia	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0001328	HP:0002442	Dyscalculia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001328	HP:0002442	Dyscalculia	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0001328	HP:0010522	Dyslexia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0001328	HP:0002442	Dyscalculia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0001328	HP:0002442	Dyscalculia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0001328	HP:0010522	Dyslexia	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	56
HP:0001328	HP:0002442	Dyscalculia	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0001328	HP:0010522	Dyslexia	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0001328	HP:0002442	Dyscalculia	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0001328	HP:0002442	Dyscalculia	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0001328	HP:0010522	Dyslexia	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0001328	HP:0002442	Dyscalculia	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0001328	HP:0010522	Dyslexia	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	42
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0002442	Dyscalculia	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0001328	HP:0010522	Dyslexia	1	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.	27
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001328	HP:0002442	Dyscalculia	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0001328	HP:0010522	Dyslexia	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001328	HP:0002442	Dyscalculia	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0001328	HP:0010522	Dyslexia	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0001328	HP:0010522	Dyslexia	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0001328	HP:0010522	Dyslexia	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0001328	HP:0010522	Dyslexia	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001328	HP:0002442	Dyscalculia	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0001328	HP:0010522	Dyslexia	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0001328	HP:0010522	Dyslexia	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	126
HP:0001328	HP:0002442	Dyscalculia	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0001328	HP:0002442	Dyscalculia	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0001328	HP:0010522	Dyslexia	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0001328	HP:0010522	Dyslexia	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001328	HP:0002442	Dyscalculia	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001328	HP:0010522	Dyslexia	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0001328	HP:0002442	Dyscalculia	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional	140
HP:0001328	HP:0010522	Dyslexia	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	140
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0001328	HP:0010522	Dyslexia	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0001328	HP:0010522	Dyslexia	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0001328	HP:0002442	Dyscalculia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0001328	HP:0010522	Dyslexia	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0001328	HP:0010522	Dyslexia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional	7
HP:0001328	HP:0010522	Dyslexia	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0001328	HP:0002442	Dyscalculia	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2
HP:0001328	HP:0002442	Dyscalculia	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0001328	HP:0010522	Dyslexia	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0001328	HP:0010522	Dyslexia	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	241
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0001328	HP:0010522	Dyslexia	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0001328	HP:0002442	Dyscalculia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0001328	HP:0010522	Dyslexia	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0001328	HP:0010522	Dyslexia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001328	HP:0002442	Dyscalculia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0001328	HP:0010522	Dyslexia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0001328	HP:0002442	Dyscalculia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0001328	HP:0002442	Dyscalculia	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0001328	HP:0010522	Dyslexia	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0001328	HP:0002442	Dyscalculia	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0001328	HP:0002442	Dyscalculia	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0001328	HP:0010522	Dyslexia	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0001328	HP:0010522	Dyslexia	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0001328	HP:0002442	Dyscalculia	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0001328	HP:0010522	Dyslexia	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0001328	HP:0002442	Dyscalculia	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0001328	HP:0010522	Dyslexia	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0001328	HP:0010522	Dyslexia	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	31
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010794	Impaired visuospatial constructive cognition	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001328	HP:0010522	Dyslexia	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0001328	HP:0010522	Dyslexia	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0001328	HP:0002442	Dyscalculia	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0001328	HP:0002442	Dyscalculia	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0001328	HP:0002442	Dyscalculia	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0001328	HP:0010522	Dyslexia	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0001328	HP:0010522	Dyslexia	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent

Genes (288) :ABCD1 ACTB ACTG1 ADGRG1 AFF2 ALDH18A1 ALDOA ALMS1 AMACR AMER1 APC APC2 ARL6 ARVCF ARX ASPA ATP7A AUTS2 B3GALNT2 B4GAT1 BBS1 BLM BPTF C9ORF72 CA2 CACNA1A CACNA1H CCDC28B CDC45 CDC6 CDON CDT1 CHCHD10 CHMP2B CHRNA7 CHSY1 CKAP2L CLTCL1 CNKSR2 COL4A1 COMT COQ2 COX1 COX2 COX3 COX7B CRPPA CYLD CYP27A1 DAG1 DARS2 DCC DGCR2 DGCR6 DGCR8 DIS3L2 DISP1 DLL1 DMD DNAAF4 DNAJC21 DNAL4 DPYD DVL1 DVL3 EHMT1 ELN ESS2 EXTL3 FANCF FARSB FBXW7 FGF8 FGFR1 FIBP FKRP FKTN FLT4 FMR1 FOXH1 FOXP2 FRMD5 FUS FZD2 GABRA1 GABRB3 GABRG2 GALT GAS1 GCLC GDI1 GJC2 GLI2 GLUD1 GMNN GNPTAB GP1BB GRB10 GRIA3 GRIN2A GRN H19 HAL HCCS HDAC8 HERC2 HINT1 HIRA HMGA2 HNRNPA1 HNRNPA2B1 HTT IFNG IGF2 INPP5K IPW IRF6 JAG1 JMJD1C JRK KAT6B KCNA1 KCNC3 KCNJ2 KCNJ5 KIF11 KIFBP KLF13 LARGE1 LAS1L LEMD3 LTBP1 LTBP4 LYST MAGEL2 MAN2B1 MAP1B MAP2K2 MAPT MBTPS2 MED13L MICU1 MID1 MKRN3 MKRN3-AS1 MLXIPL MORC2 MSX1 MTHFR MTOR MYCN MYO5A ND1 ND4 ND5 ND6 NDN NDUFB11 NECTIN1 NF1 NIPA1 NIPA2 NODAL NOTCH3 NPAP1 NSD1 NTN1 NTRK1 OCA2 OPA3 ORC1 ORC4 ORC6 PAPPA2 PDE4D PI4KA PIEZO2 PIGH PIK3C2A PLA2G6 PLCH1 PMPCA PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAR1A PRKAR1B PRMT7 PRNP PRRT2 PSEN1 PSMD12 PTCH1 PTDSS1 PWAR1 PWRN1 RAD51 RDH11 RNF168 RNU4ATAC RPS23 RREB1 RXYLT1 SARDH SBDS SBF2 SC5D SEC24C SETD2 SH2B1 SHH SIL1 SIM1 SIX3 SIX6 SLC25A15 SLC2A1 SLC2A10 SLC2A3 SMAD4 SMARCA2 SMC1A SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX2 SPART SPG11 SPG7 SPRED1 SPTBN1 SQSTM1 SRP54 SRPX2 SRY STAG2 STIL STIM1 SUGCT SYN1 TARDBP TBK1 TBX1 TCF12 TCF4 TCTN3 TDGF1 TERC TERT TGIF1 THOC6 TINF2 TMEM106B TMEM63A TMEM94 TP63 TREM2 TRIO TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TUBB2B TUBB3 TUBB4A TUBG1 TWNK UBE3B UFD1 VCP VPS13D VPS41 WAS WDR1 WIPF1 WNT5A YY1AP1 ZFYVE26 ZIC2

Diseases (190) :ORPHA:139396 ORPHA:2995 ORPHA:98889 ORPHA:100973 OMIM:601162 ORPHA:57 ORPHA:64 ORPHA:79095 ORPHA:2780 ORPHA:261584 ORPHA:821 OMIM:209900 ORPHA:567 OMIM:300215 ORPHA:314918 ORPHA:198 ORPHA:352490 ORPHA:899 OMIM:210900 ORPHA:529962 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:100069 ORPHA:2785 OMIM:141500 ORPHA:64280 ORPHA:2554 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:600795 OMIM:612001 ORPHA:363417 ORPHA:3255 ORPHA:453510 OMIM:301008 OMIM:607426 ORPHA:550 ORPHA:2556 OMIM:619132 ORPHA:909 ORPHA:137898 ORPHA:238722 OMIM:192430 ORPHA:2849 ORPHA:98896 OMIM:127700 OMIM:260400 ORPHA:1675 ORPHA:3107 ORPHA:96147 OMIM:194050 ORPHA:508533 OMIM:603467 OMIM:613658 OMIM:620012 ORPHA:500095 ORPHA:79452 ORPHA:449291 ORPHA:209908 OMIM:620094 ORPHA:1945 ORPHA:79239 ORPHA:33574 OMIM:300849 ORPHA:35878 OMIM:252600 ORPHA:96182 ORPHA:364028 ORPHA:289266 ORPHA:163721 ORPHA:231144 ORPHA:2157 ORPHA:3459 OMIM:176270 ORPHA:324442 ORPHA:94063 ORPHA:52430 ORPHA:399 ORPHA:805 OMIM:613254 ORPHA:559 ORPHA:1300 ORPHA:199302 OMIM:118450 ORPHA:3047 ORPHA:37612 ORPHA:98768 OMIM:170390 ORPHA:37553 ORPHA:2526 ORPHA:66629 OMIM:619451 ORPHA:167 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:309282 OMIM:618918 ORPHA:638 ORPHA:240085 ORPHA:2273 ORPHA:369891 OMIM:615673 ORPHA:2745 ORPHA:466768 ORPHA:395 ORPHA:457485 OMIM:164280 ORPHA:391641 ORPHA:33445 ORPHA:97685 ORPHA:363700 OMIM:162200 OMIM:601321 ORPHA:261183 ORPHA:136 ORPHA:228415 ORPHA:642 ORPHA:67036 OMIM:619489 ORPHA:280651 ORPHA:2461 OMIM:618010 ORPHA:557003 ORPHA:199351 ORPHA:1170 ORPHA:459033 ORPHA:86812 ORPHA:206559 ORPHA:412066 ORPHA:464288 ORPHA:280397 ORPHA:98811 ORPHA:2658 ORPHA:436245 ORPHA:420741 ORPHA:2636 OMIM:617412 ORPHA:3129 ORPHA:99956 ORPHA:46059 ORPHA:261197 OMIM:147250 ORPHA:171829 ORPHA:398079 OMIM:206900 ORPHA:415 OMIM:238970 OMIM:606777 ORPHA:3342 ORPHA:2588 ORPHA:3051 ORPHA:77293 ORPHA:101000 ORPHA:2822 OMIM:604360 ORPHA:99013 OMIM:611431 ORPHA:137605 OMIM:619475 ORPHA:1772 OMIM:185070 ORPHA:35706 OMIM:300491 ORPHA:85294 OMIM:188400 OMIM:619718 ORPHA:2896 ORPHA:2753 OMIM:127550 ORPHA:363444 OMIM:618688 OMIM:618316 ORPHA:476126 OMIM:191100 OMIM:610031 OMIM:600638 OMIM:612438 OMIM:271245 ORPHA:2707 ORPHA:95434 ORPHA:906 OMIM:150550 ORPHA:79094 ORPHA:100996

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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