Human Phenotype Ontology

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:0001608	HP:0001608	Abnormality of the voice	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0001608	HP:0001608	Abnormality of the voice	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type		34
HP:0001608	HP:0001608	Abnormality of the voice	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0001608	HP:0001608	Abnormality of the voice	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0001608	HP:0001608	Abnormality of the voice	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0001608	HP:0001608	Abnormality of the voice	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0001608	HP:0001608	Abnormality of the voice	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0001608	HP:0001608	Abnormality of the voice	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001608	HP:0001608	Abnormality of the voice	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001608	HP:0001608	Abnormality of the voice	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0001608	HP:0001608	Abnormality of the voice	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability		59
HP:0001608	HP:0001608	Abnormality of the voice	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0001608	HP:0001608	Abnormality of the voice	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001608	HP:0001608	Abnormality of the voice	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0001608	HP:0001608	Abnormality of the voice	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0001608	HP:0001608	Abnormality of the voice	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0001608	HP:0001608	Abnormality of the voice	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0001608	HP:0001608	Abnormality of the voice	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0001608	HP:0001608	Abnormality of the voice	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0001608	HP:0001608	Abnormality of the voice	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0001608	HP:0001608	Abnormality of the voice	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	65
HP:0001608	HP:0001608	Abnormality of the voice	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0001608	HP:0001608	Abnormality of the voice	0	AP4E1 CL E G H	23431	573	OMIM:184450	Stuttering, familial persistent, 1	.	48
HP:0001608	HP:0001608	Abnormality of the voice	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease		125
HP:0001608	HP:0001608	Abnormality of the voice	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0001608	HP:0001608	Abnormality of the voice	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate		6
HP:0001608	HP:0001608	Abnormality of the voice	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0001608	HP:0001608	Abnormality of the voice	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001608	HP:0001608	Abnormality of the voice	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001608	HP:0001608	Abnormality of the voice	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease		48
HP:0001608	HP:0001608	Abnormality of the voice	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001608	HP:0001608	Abnormality of the voice	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001608	HP:0001608	Abnormality of the voice	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0001608	HP:0001608	Abnormality of the voice	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0001608	HP:0001608	Abnormality of the voice	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0001608	HP:0001608	Abnormality of the voice	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0001608	HP:0001608	Abnormality of the voice	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0001608	HP:0001608	Abnormality of the voice	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0001608	HP:0001608	Abnormality of the voice	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	43
HP:0001608	HP:0001608	Abnormality of the voice	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0001608	HP:0001608	Abnormality of the voice	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0001608	HP:0001608	Abnormality of the voice	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0001608	HP:0001608	Abnormality of the voice	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001608	HP:0001608	Abnormality of the voice	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001608	HP:0001608	Abnormality of the voice	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate		38
HP:0001608	HP:0001608	Abnormality of the voice	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0001608	HP:0001608	Abnormality of the voice	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0001608	HP:0001608	Abnormality of the voice	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0001608	HP:0001608	Abnormality of the voice	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001608	HP:0001608	Abnormality of the voice	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001608	HP:0001608	Abnormality of the voice	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001608	HP:0001608	Abnormality of the voice	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001608	HP:0001608	Abnormality of the voice	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001608	HP:0001608	Abnormality of the voice	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0001608	HP:0001608	Abnormality of the voice	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate		1003
HP:0001608	HP:0001608	Abnormality of the voice	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0001608	HP:0001608	Abnormality of the voice	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0001608	HP:0001608	Abnormality of the voice	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0001608	HP:0001608	Abnormality of the voice	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	515
HP:0001608	HP:0001608	Abnormality of the voice	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0001608	HP:0001608	Abnormality of the voice	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0001608	HP:0001608	Abnormality of the voice	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0001608	HP:0001608	Abnormality of the voice	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0001608	HP:0001608	Abnormality of the voice	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0001608	HP:0001608	Abnormality of the voice	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0001608	HP:0001608	Abnormality of the voice	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0001608	HP:0001608	Abnormality of the voice	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0001608	HP:0001608	Abnormality of the voice	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0001608	HP:0001608	Abnormality of the voice	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0001608	HP:0001608	Abnormality of the voice	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0001608	HP:0001608	Abnormality of the voice	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0001608	HP:0001608	Abnormality of the voice	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0001608	HP:0001608	Abnormality of the voice	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0001608	HP:0001608	Abnormality of the voice	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0001608	HP:0001608	Abnormality of the voice	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0001608	HP:0001608	Abnormality of the voice	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0001608	HP:0001608	Abnormality of the voice	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0001608	HP:0001608	Abnormality of the voice	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0001608	HP:0001608	Abnormality of the voice	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0001608	HP:0001608	Abnormality of the voice	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001608	HP:0001608	Abnormality of the voice	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	36
HP:0001608	HP:0001608	Abnormality of the voice	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0001608	HP:0001608	Abnormality of the voice	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0001608	HP:0001608	Abnormality of the voice	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0001608	HP:0001608	Abnormality of the voice	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001608	HP:0001608	Abnormality of the voice	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001608	HP:0001608	Abnormality of the voice	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0001608	HP:0001608	Abnormality of the voice	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency		57
HP:0001608	HP:0001608	Abnormality of the voice	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0001608	HP:0001608	Abnormality of the voice	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001608	HP:0001608	Abnormality of the voice	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0001608	HP:0001608	Abnormality of the voice	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0001608	HP:0001608	Abnormality of the voice	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001608	HP:0001608	Abnormality of the voice	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate		1
HP:0001608	HP:0001608	Abnormality of the voice	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0001608	HP:0001608	Abnormality of the voice	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5		30
HP:0001608	HP:0001608	Abnormality of the voice	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001608	HP:0001608	Abnormality of the voice	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001608	HP:0001608	Abnormality of the voice	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0001608	HP:0001608	Abnormality of the voice	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001608	HP:0001608	Abnormality of the voice	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0001608	HP:0001608	Abnormality of the voice	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0001608	HP:0001608	Abnormality of the voice	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0001608	HP:0001608	Abnormality of the voice	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0001608	HP:0001608	Abnormality of the voice	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0001608	HP:0001608	Abnormality of the voice	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0001608	HP:0001608	Abnormality of the voice	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0001608	HP:0001608	Abnormality of the voice	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0001608	HP:0001608	Abnormality of the voice	0	EIF2AK2 CL E G H	5610	9437	ORPHA:256	Early-onset generalized limb-onset dystonia	HP:0040282 - Frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0001608	HP:0001608	Abnormality of the voice	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001608	HP:0001608	Abnormality of the voice	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0001608	HP:0001608	Abnormality of the voice	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001608	HP:0001608	Abnormality of the voice	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001608	HP:0001608	Abnormality of the voice	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0001608	HP:0001608	Abnormality of the voice	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001608	HP:0001608	Abnormality of the voice	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001608	HP:0001608	Abnormality of the voice	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0001608	HP:0001608	Abnormality of the voice	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001608	HP:0001608	Abnormality of the voice	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0001608	HP:0001608	Abnormality of the voice	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001608	HP:0001608	Abnormality of the voice	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0001608	HP:0001608	Abnormality of the voice	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0001608	HP:0001608	Abnormality of the voice	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0001608	HP:0001608	Abnormality of the voice	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia		1361
HP:0001608	HP:0001608	Abnormality of the voice	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0001608	HP:0001608	Abnormality of the voice	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0001608	HP:0001608	Abnormality of the voice	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	2
HP:0001608	HP:0001608	Abnormality of the voice	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	3
HP:0001608	HP:0001608	Abnormality of the voice	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0001608	HP:0001608	Abnormality of the voice	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	17
HP:0001608	HP:0001608	Abnormality of the voice	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0001608	HP:0001608	Abnormality of the voice	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	172
HP:0001608	HP:0001608	Abnormality of the voice	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0001608	HP:0001608	Abnormality of the voice	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0001608	HP:0001608	Abnormality of the voice	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001608	HP:0001608	Abnormality of the voice	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001608	HP:0001608	Abnormality of the voice	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0001608	HP:0001608	Abnormality of the voice	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001608	HP:0001608	Abnormality of the voice	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	157
HP:0001608	HP:0001608	Abnormality of the voice	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0001608	HP:0001608	Abnormality of the voice	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	184
HP:0001608	HP:0001608	Abnormality of the voice	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0001608	HP:0001608	Abnormality of the voice	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	4
HP:0001608	HP:0001608	Abnormality of the voice	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0001608	HP:0001608	Abnormality of the voice	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0001608	HP:0001608	Abnormality of the voice	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech		143
HP:0001608	HP:0001608	Abnormality of the voice	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep		4
HP:0001608	HP:0001608	Abnormality of the voice	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0001608	HP:0001608	Abnormality of the voice	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0001608	HP:0001608	Abnormality of the voice	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0001608	HP:0001608	Abnormality of the voice	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0001608	HP:0001608	Abnormality of the voice	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0001608	HP:0001608	Abnormality of the voice	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0001608	HP:0001608	Abnormality of the voice	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001608	HP:0001608	Abnormality of the voice	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001608	HP:0001608	Abnormality of the voice	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0001608	HP:0001608	Abnormality of the voice	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001608	HP:0001608	Abnormality of the voice	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001608	HP:0001608	Abnormality of the voice	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0001608	HP:0001608	Abnormality of the voice	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0001608	HP:0001608	Abnormality of the voice	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0001608	HP:0001608	Abnormality of the voice	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001608	HP:0001608	Abnormality of the voice	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome		98
HP:0001608	HP:0001608	Abnormality of the voice	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0001608	HP:0001608	Abnormality of the voice	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0001608	HP:0001608	Abnormality of the voice	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0001608	Abnormality of the voice	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0001608	HP:0001608	Abnormality of the voice	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0001608	HP:0001608	Abnormality of the voice	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	34
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type		13
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0001608	HP:0001608	Abnormality of the voice	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0001608	HP:0001608	Abnormality of the voice	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0001608	HP:0001608	Abnormality of the voice	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001608	HP:0001608	Abnormality of the voice	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0001608	HP:0001608	Abnormality of the voice	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0001608	HP:0001608	Abnormality of the voice	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0001608	HP:0001608	Abnormality of the voice	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0001608	HP:0001608	Abnormality of the voice	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0001608	HP:0001608	Abnormality of the voice	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001608	Abnormality of the voice	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0001608	HP:0001608	Abnormality of the voice	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001608	HP:0001608	Abnormality of the voice	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum		12
HP:0001608	HP:0001608	Abnormality of the voice	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep		434
HP:0001608	HP:0001608	Abnormality of the voice	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome		434
HP:0001608	HP:0001608	Abnormality of the voice	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0001608	HP:0001608	Abnormality of the voice	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		434
HP:0001608	HP:0001608	Abnormality of the voice	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001608	HP:0001608	Abnormality of the voice	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001608	HP:0001608	Abnormality of the voice	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0001608	HP:0001608	Abnormality of the voice	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001608	HP:0001608	Abnormality of the voice	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001608	HP:0001608	Abnormality of the voice	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0001608	HP:0001608	Abnormality of the voice	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001608	HP:0001608	Abnormality of the voice	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	21
HP:0001608	HP:0001608	Abnormality of the voice	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0001608	HP:0001608	Abnormality of the voice	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0001608	HP:0001608	Abnormality of the voice	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0001608	HP:0001608	Abnormality of the voice	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	8
HP:0001608	HP:0001608	Abnormality of the voice	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0001608	HP:0001608	Abnormality of the voice	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0001608	HP:0001608	Abnormality of the voice	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0001608	HP:0001608	Abnormality of the voice	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0001608	HP:0001608	Abnormality of the voice	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0001608	HP:0001608	Abnormality of the voice	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0001608	HP:0001608	Abnormality of the voice	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0001608	HP:0001608	Abnormality of the voice	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0001608	HP:0001608	Abnormality of the voice	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001608	HP:0001608	Abnormality of the voice	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0001608	HP:0001608	Abnormality of the voice	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0001608	HP:0001608	Abnormality of the voice	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0001608	HP:0001608	Abnormality of the voice	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0001608	HP:0001608	Abnormality of the voice	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0001608	HP:0001608	Abnormality of the voice	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome		119
HP:0001608	HP:0001608	Abnormality of the voice	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0001608	HP:0001608	Abnormality of the voice	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus		99
HP:0001608	HP:0001608	Abnormality of the voice	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate		99
HP:0001608	HP:0001608	Abnormality of the voice	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0001608	HP:0001608	Abnormality of the voice	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0001608	HP:0001608	Abnormality of the voice	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0001608	HP:0001608	Abnormality of the voice	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001608	HP:0001608	Abnormality of the voice	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0001608	HP:0001608	Abnormality of the voice	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001608	HP:0001608	Abnormality of the voice	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0001608	HP:0001608	Abnormality of the voice	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0001608	HP:0001608	Abnormality of the voice	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001608	HP:0001608	Abnormality of the voice	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0001608	HP:0001608	Abnormality of the voice	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0001608	HP:0001608	Abnormality of the voice	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0001608	HP:0001608	Abnormality of the voice	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0001608	HP:0001608	Abnormality of the voice	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0001608	HP:0001608	Abnormality of the voice	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0001608	HP:0001608	Abnormality of the voice	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0001608	HP:0001608	Abnormality of the voice	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0001608	HP:0001608	Abnormality of the voice	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	136
HP:0001608	HP:0001608	Abnormality of the voice	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome		68
HP:0001608	HP:0001608	Abnormality of the voice	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0001608	HP:0001608	Abnormality of the voice	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001608	HP:0001608	Abnormality of the voice	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001608	HP:0001608	Abnormality of the voice	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001608	HP:0001608	Abnormality of the voice	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0001608	HP:0001608	Abnormality of the voice	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0001608	HP:0001608	Abnormality of the voice	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001608	HP:0001608	Abnormality of the voice	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001608	HP:0001608	Abnormality of the voice	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0001608	HP:0001608	Abnormality of the voice	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0001608	HP:0001608	Abnormality of the voice	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3		12
HP:0001608	HP:0001608	Abnormality of the voice	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001608	HP:0001608	Abnormality of the voice	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0001608	HP:0001608	Abnormality of the voice	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001608	HP:0001608	Abnormality of the voice	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0001608	HP:0001608	Abnormality of the voice	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0001608	HP:0001608	Abnormality of the voice	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0001608	HP:0001608	Abnormality of the voice	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0001608	HP:0001608	Abnormality of the voice	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001608	HP:0001608	Abnormality of the voice	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0001608	HP:0001608	Abnormality of the voice	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome		140
HP:0001608	HP:0001608	Abnormality of the voice	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome		140
HP:0001608	HP:0001608	Abnormality of the voice	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0001608	HP:0001608	Abnormality of the voice	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0001608	HP:0001608	Abnormality of the voice	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0001608	HP:0001608	Abnormality of the voice	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0001608	HP:0001608	Abnormality of the voice	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0001608	HP:0001608	Abnormality of the voice	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0001608	HP:0001608	Abnormality of the voice	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0001608	HP:0001608	Abnormality of the voice	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	228
HP:0001608	HP:0001608	Abnormality of the voice	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0001608	HP:0001608	Abnormality of the voice	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0001608	HP:0001608	Abnormality of the voice	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0001608	HP:0001608	Abnormality of the voice	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0001608	HP:0001608	Abnormality of the voice	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0001608	HP:0001608	Abnormality of the voice	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0001608	HP:0001608	Abnormality of the voice	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0001608	HP:0001608	Abnormality of the voice	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0001608	HP:0001608	Abnormality of the voice	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0001608	HP:0001608	Abnormality of the voice	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0001608	HP:0001608	Abnormality of the voice	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001608	HP:0001608	Abnormality of the voice	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0001608	HP:0001608	Abnormality of the voice	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001608	HP:0001608	Abnormality of the voice	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001608	HP:0001608	Abnormality of the voice	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus		12
HP:0001608	HP:0001608	Abnormality of the voice	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate		12
HP:0001608	HP:0001608	Abnormality of the voice	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0001608	HP:0001608	Abnormality of the voice	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001608	HP:0001608	Abnormality of the voice	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0001608	HP:0001608	Abnormality of the voice	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0001608	HP:0001608	Abnormality of the voice	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0001608	HP:0001608	Abnormality of the voice	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001608	HP:0001608	Abnormality of the voice	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001608	HP:0001608	Abnormality of the voice	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0001608	HP:0001608	Abnormality of the voice	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0001608	HP:0001608	Abnormality of the voice	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0001608	HP:0001608	Abnormality of the voice	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0001608	HP:0001608	Abnormality of the voice	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0001608	HP:0001608	Abnormality of the voice	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0001608	HP:0001608	Abnormality of the voice	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001608	HP:0001608	Abnormality of the voice	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001608	HP:0001608	Abnormality of the voice	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0001608	HP:0001608	Abnormality of the voice	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus		4
HP:0001608	HP:0001608	Abnormality of the voice	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate		4
HP:0001608	HP:0001608	Abnormality of the voice	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0001608	HP:0001608	Abnormality of the voice	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0001608	HP:0001608	Abnormality of the voice	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0001608	HP:0001608	Abnormality of the voice	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0001608	HP:0001608	Abnormality of the voice	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0001608	HP:0001608	Abnormality of the voice	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0001608	HP:0001608	Abnormality of the voice	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0001608	HP:0001608	Abnormality of the voice	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0001608	HP:0001608	Abnormality of the voice	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0001608	HP:0001608	Abnormality of the voice	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0001608	HP:0001608	Abnormality of the voice	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001608	HP:0001608	Abnormality of the voice	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001608	HP:0001608	Abnormality of the voice	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001608	HP:0001608	Abnormality of the voice	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0001608	Abnormality of the voice	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0001608	HP:0001608	Abnormality of the voice	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0001608	HP:0001608	Abnormality of the voice	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0001608	HP:0001608	Abnormality of the voice	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0001608	HP:0001608	Abnormality of the voice	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0001608	HP:0001608	Abnormality of the voice	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0001608	HP:0001608	Abnormality of the voice	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001608	HP:0001608	Abnormality of the voice	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0001608	HP:0001608	Abnormality of the voice	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0001608	HP:0001608	Abnormality of the voice	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	2
HP:0001608	HP:0001608	Abnormality of the voice	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0001608	HP:0001608	Abnormality of the voice	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0001608	HP:0001608	Abnormality of the voice	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0001608	HP:0001608	Abnormality of the voice	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0001608	HP:0001608	Abnormality of the voice	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0001608	HP:0001608	Abnormality of the voice	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0001608	HP:0001608	Abnormality of the voice	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate		337
HP:0001608	HP:0001608	Abnormality of the voice	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0001608	HP:0001608	Abnormality of the voice	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0001608	HP:0001608	Abnormality of the voice	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0001608	HP:0001608	Abnormality of the voice	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0001608	HP:0001608	Abnormality of the voice	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0001608	HP:0001608	Abnormality of the voice	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001608	HP:0001608	Abnormality of the voice	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional	79
HP:0001608	HP:0001608	Abnormality of the voice	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0001608	HP:0001608	Abnormality of the voice	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures		92
HP:0001608	HP:0001608	Abnormality of the voice	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0001608	HP:0001608	Abnormality of the voice	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001608	HP:0001608	Abnormality of the voice	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0001608	HP:0001608	Abnormality of the voice	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0001608	HP:0001608	Abnormality of the voice	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0001608	HP:0001608	Abnormality of the voice	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0001608	HP:0001608	Abnormality of the voice	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001608	HP:0001608	Abnormality of the voice	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	180
HP:0001608	HP:0001608	Abnormality of the voice	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	213
HP:0001608	HP:0001608	Abnormality of the voice	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040282 - Frequent	221
HP:0001608	HP:0001608	Abnormality of the voice	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0001608	HP:0001608	Abnormality of the voice	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001608	HP:0001608	Abnormality of the voice	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0001608	HP:0001608	Abnormality of the voice	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001608	HP:0001608	Abnormality of the voice	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0001608	HP:0001608	Abnormality of the voice	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0001608	HP:0001608	Abnormality of the voice	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0001608	HP:0001608	Abnormality of the voice	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome		7
HP:0001608	HP:0001608	Abnormality of the voice	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16		37
HP:0001608	HP:0001608	Abnormality of the voice	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0001608	HP:0001608	Abnormality of the voice	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	9
HP:0001608	HP:0001608	Abnormality of the voice	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0001608	HP:0001608	Abnormality of the voice	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0001608	HP:0001608	Abnormality of the voice	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0001608	HP:0001608	Abnormality of the voice	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0001608	HP:0001608	Abnormality of the voice	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0001608	HP:0001608	Abnormality of the voice	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0001608	HP:0001608	Abnormality of the voice	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001608	HP:0001608	Abnormality of the voice	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0001608	HP:0001608	Abnormality of the voice	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0001608	HP:0001608	Abnormality of the voice	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0001608	HP:0001608	Abnormality of the voice	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0001608	HP:0001608	Abnormality of the voice	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0001608	HP:0001608	Abnormality of the voice	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0001608	HP:0001608	Abnormality of the voice	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001608	HP:0001608	Abnormality of the voice	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0001608	HP:0001608	Abnormality of the voice	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0001608	HP:0001608	Abnormality of the voice	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0001608	HP:0001608	Abnormality of the voice	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0001608	HP:0001608	Abnormality of the voice	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001608	HP:0001608	Abnormality of the voice	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0001608	HP:0001608	Abnormality of the voice	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0001608	HP:0001608	Abnormality of the voice	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001608	HP:0001608	Abnormality of the voice	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001608	HP:0001608	Abnormality of the voice	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001608	HP:0001608	Abnormality of the voice	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001608	HP:0001608	Abnormality of the voice	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent	3
HP:0001608	HP:0001608	Abnormality of the voice	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0001608	HP:0001608	Abnormality of the voice	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001608	HP:0001608	Abnormality of the voice	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0001608	HP:0001608	Abnormality of the voice	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0001608	HP:0001608	Abnormality of the voice	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0001608	HP:0001608	Abnormality of the voice	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001608	HP:0001608	Abnormality of the voice	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0001608	HP:0001608	Abnormality of the voice	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0001608	HP:0001608	Abnormality of the voice	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	5
HP:0001608	HP:0001608	Abnormality of the voice	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2		5
HP:0001608	HP:0001608	Abnormality of the voice	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001608	HP:0001608	Abnormality of the voice	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0001608	HP:0001608	Abnormality of the voice	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0001608	HP:0001608	Abnormality of the voice	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0001608	HP:0001608	Abnormality of the voice	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0001608	HP:0001608	Abnormality of the voice	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	14
HP:0001608	HP:0001608	Abnormality of the voice	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0001608	HP:0001608	Abnormality of the voice	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1		64
HP:0001608	HP:0001608	Abnormality of the voice	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0001608	HP:0001608	Abnormality of the voice	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001608	HP:0001608	Abnormality of the voice	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0001608	HP:0001608	Abnormality of the voice	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0001608	HP:0001608	Abnormality of the voice	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0001608	HP:0001608	Abnormality of the voice	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001608	HP:0001608	Abnormality of the voice	0	SHQ1 CL E G H	55164	25543	ORPHA:256	Early-onset generalized limb-onset dystonia	HP:0040282 - Frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0001608	HP:0001608	Abnormality of the voice	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome		55
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0001608	HP:0001608	Abnormality of the voice	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0001608	HP:0001608	Abnormality of the voice	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001608	HP:0001608	Abnormality of the voice	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001608	HP:0001608	Abnormality of the voice	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0001608	HP:0001608	Abnormality of the voice	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0001608	HP:0001608	Abnormality of the voice	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0001608	HP:0001608	Abnormality of the voice	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0001608	HP:0001608	Abnormality of the voice	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0001608	HP:0001608	Abnormality of the voice	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0001608	HP:0001608	Abnormality of the voice	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0001608	HP:0001608	Abnormality of the voice	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0001608	HP:0001608	Abnormality of the voice	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0001608	HP:0001608	Abnormality of the voice	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0001608	HP:0001608	Abnormality of the voice	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0001608	HP:0001608	Abnormality of the voice	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0001608	HP:0001608	Abnormality of the voice	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0001608	HP:0001608	Abnormality of the voice	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	61
HP:0001608	HP:0001608	Abnormality of the voice	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0001608	HP:0001608	Abnormality of the voice	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0001608	HP:0001608	Abnormality of the voice	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0001608	HP:0001608	Abnormality of the voice	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	5
HP:0001608	HP:0001608	Abnormality of the voice	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0001608	HP:0001608	Abnormality of the voice	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001608	HP:0001608	Abnormality of the voice	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0001608	HP:0001608	Abnormality of the voice	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0001608	HP:0001608	Abnormality of the voice	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0001608	HP:0001608	Abnormality of the voice	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0001608	HP:0001608	Abnormality of the voice	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome		50
HP:0001608	HP:0001608	Abnormality of the voice	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0001608	HP:0001608	Abnormality of the voice	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0001608	HP:0001608	Abnormality of the voice	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0001608	HP:0001608	Abnormality of the voice	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001608	HP:0001608	Abnormality of the voice	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001608	HP:0001608	Abnormality of the voice	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0001608	HP:0001608	Abnormality of the voice	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset		9
HP:0001608	HP:0001608	Abnormality of the voice	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001608	HP:0001608	Abnormality of the voice	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0001608	HP:0001608	Abnormality of the voice	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0001608	HP:0001608	Abnormality of the voice	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	34
HP:0001608	HP:0001608	Abnormality of the voice	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0001608	HP:0001608	Abnormality of the voice	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001608	HP:0001608	Abnormality of the voice	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0001608	HP:0001608	Abnormality of the voice	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0001608	HP:0001608	Abnormality of the voice	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0001608	HP:0001608	Abnormality of the voice	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0001608	HP:0001608	Abnormality of the voice	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0001608	HP:0001608	Abnormality of the voice	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0001608	HP:0001608	Abnormality of the voice	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0001608	HP:0001608	Abnormality of the voice	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent	253
HP:0001608	HP:0001608	Abnormality of the voice	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0001608	HP:0001608	Abnormality of the voice	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0001608	HP:0001608	Abnormality of the voice	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0001608	HP:0001608	Abnormality of the voice	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type		42
HP:0001608	HP:0001608	Abnormality of the voice	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0001608	HP:0001608	Abnormality of the voice	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0001608	HP:0001608	Abnormality of the voice	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0001608	HP:0001608	Abnormality of the voice	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0001608	HP:0001608	Abnormality of the voice	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001608	HP:0001608	Abnormality of the voice	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0001608	HP:0001608	Abnormality of the voice	0	TOR1A CL E G H	1861	3098	ORPHA:256	Early-onset generalized limb-onset dystonia	HP:0040282 - Frequent	47
HP:0001608	HP:0001608	Abnormality of the voice	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus		140
HP:0001608	HP:0001608	Abnormality of the voice	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate		140
HP:0001608	HP:0001608	Abnormality of the voice	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0001608	HP:0001608	Abnormality of the voice	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0001608	HP:0001608	Abnormality of the voice	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0001608	HP:0001608	Abnormality of the voice	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0001608	HP:0001608	Abnormality of the voice	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001608	HP:0001608	Abnormality of the voice	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency		5
HP:0001608	HP:0001608	Abnormality of the voice	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0001608	HP:0001608	Abnormality of the voice	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R		3
HP:0001608	HP:0001608	Abnormality of the voice	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism		78
HP:0001608	HP:0001608	Abnormality of the voice	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0001608	HP:0001608	Abnormality of the voice	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0001608	HP:0001608	Abnormality of the voice	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0001608	HP:0001608	Abnormality of the voice	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0001608	HP:0001608	Abnormality of the voice	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0001608	HP:0001608	Abnormality of the voice	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0001608	HP:0001608	Abnormality of the voice	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0001608	HP:0001608	Abnormality of the voice	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0001608	HP:0001608	Abnormality of the voice	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0001608	HP:0001608	Abnormality of the voice	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0001608	HP:0001608	Abnormality of the voice	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0001608	HP:0001608	Abnormality of the voice	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent	1
HP:0001608	HP:0001608	Abnormality of the voice	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2		88
HP:0001608	HP:0001608	Abnormality of the voice	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001608	HP:0001608	Abnormality of the voice	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0001608	HP:0001608	Abnormality of the voice	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0001608	HP:0001608	Abnormality of the voice	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0001608	HP:0001608	Abnormality of the voice	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0001608	HP:0001608	Abnormality of the voice	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0001608	HP:0001608	Abnormality of the voice	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001608	HP:0001608	Abnormality of the voice	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0001608	HP:0001608	Abnormality of the voice	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001608	HP:0001608	Abnormality of the voice	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001608	HP:0001608	Abnormality of the voice	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	33
HP:0001608	HP:0001608	Abnormality of the voice	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0001608	HP:0001608	Abnormality of the voice	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0001608	HP:0001608	Abnormality of the voice	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001608	HP:0001608	Abnormality of the voice	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0001608	HP:0001608	Abnormality of the voice	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0001608	HP:0001608	Abnormality of the voice	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0001608	HP:0001608	Abnormality of the voice	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001608	HP:0001608	Abnormality of the voice	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0001608	HP:0001608	Abnormality of the voice	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0001608	HP:0001608	Abnormality of the voice	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001608	Abnormality of the voice	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent	10
HP:0001608	HP:0001608	Abnormality of the voice	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0001608	HP:0001608	Abnormality of the voice	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0001608	HP:0001608	Abnormality of the voice	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0001608	HP:0001608	Abnormality of the voice	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040282 - Frequent	149
HP:0001608	HP:0001608	Abnormality of the voice	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001608	HP:0001608	Abnormality of the voice	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0001608	HP:0001608	Abnormality of the voice	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent	10
HP:0001608	HP:0001608	Abnormality of the voice	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0001608	HP:0001608	Abnormality of the voice	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0001608	HP:0001608	Abnormality of the voice	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001608	HP:0025429	Abnormal cry	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0001608	HP:0001609	Hoarse voice	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0001608	HP:0001609	Hoarse voice	1	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040282 - Frequent	34
HP:0001608	HP:0001609	Hoarse voice	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001608	HP:0025429	Abnormal cry	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0001608	HP:0001618	Dysphonia	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0001608	HP:0001620	High pitched voice	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0001608	HP:0001609	Hoarse voice	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0001608	HP:0001618	Dysphonia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0001608	HP:0001621	Weak voice	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0001608	HP:0001609	Hoarse voice	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0001608	HP:0001609	Hoarse voice	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0001608	HP:0001609	Hoarse voice	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001608	HP:0001611	Nasal speech	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001608	HP:0001618	Dysphonia	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001608	HP:0025429	Abnormal cry	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0001608	HP:0001609	Hoarse voice	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0001608	HP:0001618	Dysphonia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0001608	HP:0009088	Speech articulation difficulties	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0001608	HP:0001618	Dysphonia	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0001608	HP:0001611	Nasal speech	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001608	HP:0001621	Weak voice	1	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0001608	HP:0001618	Dysphonia	1	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent	125
HP:0001608	HP:0001620	High pitched voice	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0001608	HP:0009088	Speech articulation difficulties	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0001608	HP:0001611	Nasal speech	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0001608	HP:0001609	Hoarse voice	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001608	HP:0001620	High pitched voice	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001608	HP:0001611	Nasal speech	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001686	Loss of voice	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0001608	HP:0025429	Abnormal cry	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0001608	HP:0001618	Dysphonia	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0001608	HP:0001609	Hoarse voice	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent	78
HP:0001608	HP:0001609	Hoarse voice	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0001608	HP:0025429	Abnormal cry	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease		48
HP:0001608	HP:0001611	Nasal speech	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001608	HP:0025429	Abnormal cry	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0001608	HP:0025429	Abnormal cry	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0001608	HP:0001618	Dysphonia	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001608	HP:0031434	Abnormal speech prosody	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001621	Weak voice	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0001608	HP:0001611	Nasal speech	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001608	HP:0001611	Nasal speech	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001608	HP:0025429	Abnormal cry	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0001608	HP:0001621	Weak voice	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0001608	HP:0031801	Vocal cord dysfunction	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0001608	HP:0031801	Vocal cord dysfunction	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0001608	HP:0031801	Vocal cord dysfunction	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0001608	HP:0001621	Weak voice	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001608	HP:0001618	Dysphonia	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0001608	HP:0001611	Nasal speech	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0001608	HP:0001609	Hoarse voice	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001618	Dysphonia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001608	HP:0001618	Dysphonia	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0001608	HP:0001620	High pitched voice	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001608	HP:0001611	Nasal speech	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0001608	HP:0009088	Speech articulation difficulties	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001620	High pitched voice	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001608	HP:0001618	Dysphonia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001609	Hoarse voice	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0001608	HP:0001611	Nasal speech	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001608	HP:0001611	Nasal speech	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0001608	HP:0001611	Nasal speech	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001608	HP:0001618	Dysphonia	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001608	HP:0001618	Dysphonia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169	</