Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001344	HP:0001344	Absent speech	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	808	291	608222
HP:0001344	HP:0001344	Absent speech	0	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	191	20609	600859
HP:0001344	HP:0001344	Absent speech	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	586	9722	138250
HP:0001344	HP:0001344	Absent speech	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1	244	32456	613666
HP:0001344	HP:0001344	Absent speech	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	690	567	602166
HP:0001344	HP:0001344	Absent speech	0	ASH1L CL E G H	55870	617796	MENTAL RETARDATION, AUTOSOMAL DOMINANT 52	617796	C4540478	OMIM	1	449	19088	607999
HP:0001344	HP:0001344	Absent speech	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	680	29357	615115
HP:0001344	HP:0001344	Absent speech	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	229	851	607027
HP:0001344	HP:0001344	Absent speech	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	525	13222	606558
HP:0001344	HP:0001344	Absent speech	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	1147	21701	614506
HP:0001344	HP:0001344	Absent speech	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	791	24564	615944
HP:0001344	HP:0001344	Absent speech	0	CACNA1E CL E G H	777	618285	618285	618285		OMIM	1	1583	1392	601013
HP:0001344	HP:0001344	Absent speech	0	CAMK2A CL E G H	815	617798	MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	617798	C4540481	OMIM	1	116	1460	114078
HP:0001344	HP:0001344	Absent speech	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	560	1461	607707
HP:0001344	HP:0001344	Absent speech	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	844	1497	300172
HP:0001344	HP:0001344	Absent speech	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0001344	HP:0001344	Absent speech	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	838	25523	609736
HP:0001344	HP:0001344	Absent speech	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	156	1583	123833
HP:0001344	HP:0001344	Absent speech	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	88	1736	116952
HP:0001344	HP:0001344	Absent speech	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0001344	HP:0001344	Absent speech	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0001344	HP:0001344	Absent speech	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0001344	HP:0001344	Absent speech	0	CLIC2 CL E G H	1193	300886	Mental retardation, X-linked, syndromic 32	300886	C3550913	OMIM	1	270	2063	300138
HP:0001344	HP:0001344	Absent speech	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001344	HP:0001344	Absent speech	0	CNKSR2 CL E G H	22866	301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE	301008	C4538788	OMIM	1	306	19701	300724
HP:0001344	HP:0001344	Absent speech	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	331	103	607803
HP:0001344	HP:0001344	Absent speech	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1867	13830	604569
HP:0001344	HP:0001344	Absent speech	0	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001344	HP:0001344	Absent speech	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	339	18620	606976
HP:0001344	HP:0001344	Absent speech	0	CPLX1 CL E G H	10815	617976	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	617976	CN244926	OMIM	1	206	2309	605032
HP:0001344	HP:0001344	Absent speech	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0001344	HP:0001344	Absent speech	0	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	144	2510	114025
HP:0001344	HP:0001344	Absent speech	0	CUL4B CL E G H	8450	85293				ORPHA	1	415	2555	300304
HP:0001344	HP:0001344	Absent speech	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	415	2555	300304
HP:0001344	HP:0001344	Absent speech	0	CYFIP2 CL E G H	26999	618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	618008	CN248516	OMIM	1	668	13760	606323
HP:0001344	HP:0001344	Absent speech	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0001344	HP:0001344	Absent speech	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	130	29812	610534
HP:0001344	HP:0001344	Absent speech	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	695	14677	602635
HP:0001344	HP:0001344	Absent speech	0	DENND5A CL E G H	23258	617281	Epileptic encephalopathy, early infantile, 49	617281	C4310635	OMIM	1	463	19344	617278
HP:0001344	HP:0001344	Absent speech	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0001344	HP:0001344	Absent speech	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0001344	HP:0001344	Absent speech	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0001344	HP:0001344	Absent speech	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	575	3192	602959
HP:0001344	HP:0001344	Absent speech	0	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	575	3192	602959
HP:0001344	HP:0001344	Absent speech	0	ELP2 CL E G H	55250	617270	Mental retardation, autosomal recessive 58	617270	C4310641	OMIM	1	166	18248	616054
HP:0001344	HP:0001344	Absent speech	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	191	1356	611605
HP:0001344	HP:0001344	Absent speech	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001344	HP:0001344	Absent speech	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	259	3668	601513
HP:0001344	HP:0001344	Absent speech	0	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001344	HP:0001344	Absent speech	0	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001344	HP:0001344	Absent speech	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	106	25491	616305
HP:0001344	HP:0001344	Absent speech	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	450	29007	300838
HP:0001344	HP:0001344	Absent speech	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	402	1362	604574
HP:0001344	HP:0001344	Absent speech	0	GABBR2 CL E G H	9568	617904	Early infantile epileptic encephalopathy 59	617904	CN870853	OMIM	1	848	4507	607340
HP:0001344	HP:0001344	Absent speech	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	494	4082	600232
HP:0001344	HP:0001344	Absent speech	0	GABRD CL E G H	2563	1606				ORPHA	1	474	4084	137163
HP:0001344	HP:0001344	Absent speech	0	GEMIN4 CL E G H	50628	617913	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	617913	CN889218	OMIM	1	241	15717	606969
HP:0001344	HP:0001344	Absent speech	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0001344	HP:0001344	Absent speech	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0001344	HP:0001344	Absent speech	0	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	1	429	4389	139311
HP:0001344	HP:0001344	Absent speech	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0001344	HP:0001344	Absent speech	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	616	4422	607664
HP:0001344	HP:0001344	Absent speech	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	109	18062	138210
HP:0001344	HP:0001344	Absent speech	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0001344	HP:0001344	Absent speech	0	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0001344	HP:0001344	Absent speech	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	929	4584	138249
HP:0001344	HP:0001344	Absent speech	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0001344	HP:0001344	Absent speech	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	823	4588	602717
HP:0001344	HP:0001344	Absent speech	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	1115	4867	605109
HP:0001344	HP:0001344	Absent speech	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	76	26938	614908
HP:0001344	HP:0001344	Absent speech	0	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	643	4921	143054
HP:0001344	HP:0001344	Absent speech	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	196	5042	300610
HP:0001344	HP:0001344	Absent speech	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0001344	HP:0001344	Absent speech	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	760	4851	613004
HP:0001344	HP:0001344	Absent speech	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0001344	HP:0001344	Absent speech	0	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	83	19857	615317
HP:0001344	HP:0001344	Absent speech	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0001344	HP:0001344	Absent speech	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	401	6220	176262
HP:0001344	HP:0001344	Absent speech	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	114	6229	601142
HP:0001344	HP:0001344	Absent speech	0	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0001344	HP:0001344	Absent speech	0	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	1	509	6299	607357
HP:0001344	HP:0001344	Absent speech	0	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1		26953	611565
HP:0001344	HP:0001344	Absent speech	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	2622	888	601255
HP:0001344	HP:0001344	Absent speech	0	KIF5C CL E G H	3800	615282	Cortical dysplasia, complex, with other brain malformations 2	615282	C3809013	OMIM	1	205	6325	604593
HP:0001344	HP:0001344	Absent speech	0	KLHL15 CL E G H	80311	300982	Mental retardation, X-linked 103	300982	C4310818	OMIM	1	207	29347	300980
HP:0001344	HP:0001344	Absent speech	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	283	25726	300964
HP:0001344	HP:0001344	Absent speech	0	LINGO1 CL E G H	84894	618103	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64	618103	CN253431	OMIM	1	78	21205	609791
HP:0001344	HP:0001344	Absent speech	0	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	113	37216	617659
HP:0001344	HP:0001344	Absent speech	0	LNPK CL E G H	80856	618090	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	618090	CN252703	OMIM	1	58	21610	610236
HP:0001344	HP:0001344	Absent speech	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	1013	6814	605283
HP:0001344	HP:0001344	Absent speech	0	MBOAT7 CL E G H	79143	617188	Mental retardation, autosomal recessive 57	617188	C4310673	OMIM	1	113	15505	606048
HP:0001344	HP:0001344	Absent speech	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	1	669	13356	605248
HP:0001344	HP:0001344	Absent speech	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001344	HP:0001344	Absent speech	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	1	593	6971	154100
HP:0001344	HP:0001344	Absent speech	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0001344	HP:0001344	Absent speech	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	155	24858	614785
HP:0001344	HP:0001344	Absent speech	0	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	147	25897	614397
HP:0001344	HP:0001344	Absent speech	0	MID2 CL E G H	11043	300928	Mental retardation, X-linked 101	300928	C3890168	OMIM	1	210	7096	300204
HP:0001344	HP:0001344	Absent speech	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	125	7207	604041
HP:0001344	HP:0001344	Absent speech	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0001344	HP:0001344	Absent speech	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0001344	HP:0001344	Absent speech	0	NCAPD2 CL E G H	9918	617983	MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE	617983	CN244930	OMIM	1	171	24305	615638
HP:0001344	HP:0001344	Absent speech	0	NEDD4L CL E G H	23327	617201	Periventricular nodular heterotopia 7	617201	C4310669	OMIM	1	882	7728	606384
HP:0001344	HP:0001344	Absent speech	0	NEXMIF CL E G H	340533	85277				ORPHA	1	990	29433	300524
HP:0001344	HP:0001344	Absent speech	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001344	HP:0001344	Absent speech	0	NTRK2 CL E G H	4915	617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	617830	CN757795	OMIM	1	509	8032	600456
HP:0001344	HP:0001344	Absent speech	0	OTUD6B CL E G H	51633	505237				ORPHA	1	89	24281	612021
HP:0001344	HP:0001344	Absent speech	0	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0001344	HP:0001344	Absent speech	0	PGAP1 CL E G H	80055	615802	Mental retardation, autosomal recessive 42	615802	C4014343	OMIM	1	379	25712	611655
HP:0001344	HP:0001344	Absent speech	0	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	1	112	17893	615187
HP:0001344	HP:0001344	Absent speech	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	483	8957	311770
HP:0001344	HP:0001344	Absent speech	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	1057	25985	616918
HP:0001344	HP:0001344	Absent speech	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	1010	8967	606097
HP:0001344	HP:0001344	Absent speech	0	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001344	HP:0001344	Absent speech	0	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	304	26031	610274
HP:0001344	HP:0001344	Absent speech	0	PIGW CL E G H	284098	616025	Hyperphosphatasia with mental retardation syndrome 5	616025	C4014958	OMIM	1	379	23213	610275
HP:0001344	HP:0001344	Absent speech	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	133	9119	603131
HP:0001344	HP:0001344	Absent speech	0	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001344	HP:0001344	Absent speech	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	906	9202	607423
HP:0001344	HP:0001344	Absent speech	0	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	358	9302	605983
HP:0001344	HP:0001344	Absent speech	0	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	397	9312	601646
HP:0001344	HP:0001344	Absent speech	0	PPP3CA CL E G H	5530	617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	617711	C4540199	OMIM	1	351	9314	114105
HP:0001344	HP:0001344	Absent speech	0	PRDM16 CL E G H	63976	1606				ORPHA	1	1272	14000	605557
HP:0001344	HP:0001344	Absent speech	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001344	HP:0001344	Absent speech	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	459	9701	600473
HP:0001344	HP:0001344	Absent speech	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	143	30262	616406
HP:0001344	HP:0001344	Absent speech	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	161	9761	604198
HP:0001344	HP:0001344	Absent speech	0	RAB3GAP2 CL E G H	25782	614225	Warburg micro syndrome 2	614225	C3280214	OMIM	1	671	17168	609275
HP:0001344	HP:0001344	Absent speech	0	RAC1 CL E G H	5879	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	617751	C4540321	OMIM	1	112	9801	602048
HP:0001344	HP:0001344	Absent speech	0	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	641	21406	611524
HP:0001344	HP:0001344	Absent speech	0	RERE CL E G H	473	1606				ORPHA	1	659	9965	605226
HP:0001344	HP:0001344	Absent speech	0	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	592	18756	607352
HP:0001344	HP:0001344	Absent speech	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001344	HP:0001344	Absent speech	0	SCN3A CL E G H	6328	617938	Early infantile epileptic encephalopathy 62	617938	CN244551	OMIM	1	1420	10590	182391
HP:0001344	HP:0001344	Absent speech	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0001344	HP:0001344	Absent speech	0	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0001344	HP:0001344	Absent speech	0	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	335	29215	300579
HP:0001344	HP:0001344	Absent speech	0	SKI CL E G H	6497	1606				ORPHA	1	1062	10896	164780
HP:0001344	HP:0001344	Absent speech	0	SLC16A2 CL E G H	6567	59				ORPHA	1	427	10923	300095
HP:0001344	HP:0001344	Absent speech	0	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0001344	HP:0001344	Absent speech	0	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0001344	HP:0001344	Absent speech	0	SLC25A12 CL E G H	8604	612949	Hypomyelination, global cerebral	612949	C2751855	OMIM	1	451	10982	603667
HP:0001344	HP:0001344	Absent speech	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	965	11005	138140
HP:0001344	HP:0001344	Absent speech	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	213	95	603690
HP:0001344	HP:0001344	Absent speech	0	SLC6A17 CL E G H	388662	616269	Mental retardation, autosomal recessive 48	616269	C4225395	OMIM	1	76	31399	610299
HP:0001344	HP:0001344	Absent speech	0	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0001344	HP:0001344	Absent speech	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0001344	HP:0001344	Absent speech	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0001344	HP:0001344	Absent speech	0	SMARCA2 CL E G H	6595	601358	Nicolaides-Baraitser syndrome	601358	C1303073	OMIM	1	1130	11098	600014
HP:0001344	HP:0001344	Absent speech	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0001344	HP:0001344	Absent speech	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	270	14977	616105
HP:0001344	HP:0001344	Absent speech	0	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	1		18119	613940
HP:0001344	HP:0001344	Absent speech	0	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0001344	HP:0001344	Absent speech	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0001344	HP:0001344	Absent speech	0	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	373	10872	604402
HP:0001344	HP:0001344	Absent speech	0	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0001344	HP:0001344	Absent speech	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0001344	HP:0001344	Absent speech	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0001344	HP:0001344	Absent speech	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	705	11581	604649
HP:0001344	HP:0001344	Absent speech	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	1069	11634	602272
HP:0001344	HP:0001344	Absent speech	0	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	1069	11634	602272
HP:0001344	HP:0001344	Absent speech	0	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	622	25774	613846
HP:0001344	HP:0001344	Absent speech	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	405	29099	611140
HP:0001344	HP:0001344	Absent speech	0	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0001344	HP:0001344	Absent speech	0	TMEM231 CL E G H	79583	614970	Joubert syndrome 20	614970	C3554235	OMIM	1	463	37234	614949
HP:0001344	HP:0001344	Absent speech	0	TMTC3 CL E G H	160418	617255	Lissencephaly 8	617255	C4310646	OMIM	1	192	26899	617218
HP:0001344	HP:0001344	Absent speech	0	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	272	15954	613931
HP:0001344	HP:0001344	Absent speech	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0001344	HP:0001344	Absent speech	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	113	20286	617840
HP:0001344	HP:0001344	Absent speech	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0001344	HP:0001344	Absent speech	0	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	1108	12496	601623
HP:0001344	HP:0001344	Absent speech	0	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001344	HP:0001344	Absent speech	0	UFM1 CL E G H	51569	617899	LEUKODYSTROPHY, HYPOMYELINATING, 14	617899	CN845004	OMIM	1	77	20597	610553
HP:0001344	HP:0001344	Absent speech	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	102	29594	612080
HP:0001344	HP:0001344	Absent speech	0	USP27X CL E G H	389856	300984	Mental retardation, X-linked 105	300984	C4310816	OMIM	1	201	13486	300975
HP:0001344	HP:0001344	Absent speech	0	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001344	HP:0001344	Absent speech	0	VPS11 CL E G H	55823	616683	Leukodystrophy, hypomyelinating, 12	616683	C4225247	OMIM	1	228	14583	608549
HP:0001344	HP:0001344	Absent speech	0	WARS2 CL E G H	10352	617710	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710	C4540192	OMIM	1	144	12730	604733
HP:0001344	HP:0001344	Absent speech	0	WDR26 CL E G H	80232	617616	SKRABAN-DEARDORFF SYNDROME	617616	C4539927	OMIM	1	185	21208	617424
HP:0001344	HP:0001344	Absent speech	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	587	28912	300526
HP:0001344	HP:0001344	Absent speech	0	WDR45B CL E G H	56270	617977	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	617977	CN244929	OMIM	1	75	25072	609226
HP:0001344	HP:0001344	Absent speech	0	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	177	12843	607472
HP:0001344	HP:0001344	Absent speech	0	ZBTB18 CL E G H	10472	612337	Mental retardation, autosomal dominant 22	612337	C2676727	OMIM	1	282	13030	608433
HP:0001344	HP:0001344	Absent speech	0	ZDHHC15 CL E G H	158866	300577	Mental retardation 91, X-linked	300577	C1845142	OMIM	1	190	20342	300576
HP:0001344	HP:0001344	Absent speech	0	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0001344	HP:0001344	Absent speech	0	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	659	29316	615951
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001344	HP:0001344	Absent speech	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0001344	HP:0001344	Absent speech	0	CASK CL E G H	8573	163937				ORPHA	0	844	1497	300172
HP:0001344	HP:0001344	Absent speech	0	CSPP1 CL E G H	79848	397715				ORPHA	0	1074	26193	611654
HP:0001344	HP:0001344	Absent speech	0	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0001344	HP:0001344	Absent speech	0	KIAA0586 CL E G H	9786	397715				ORPHA	0	1253	19960	610178
HP:0001344	HP:0001344	Absent speech	0	SIK1 CL E G H	150094	616341	Epileptic encephalopathy, early infantile, 30	616341	C4225360	OMIM	0	909	11142	605705
HP:0001344	HP:0001344	Absent speech	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0001344	HP:0001344	Absent speech	0	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0001344	HP:0001344	Absent speech	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	0	1816	26582	612636