Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	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	OMIM:278250	Wrinkly skin syndrome			140
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	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	OMIM:277590	Weaver syndrome			81
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	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	ORPHA:1306	Buschke-Ollendorff syndrome			68
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	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	OMIM:309520	Lujan-Fryns syndrome			228
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: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	OMIM:253250	Mulibrey nanism			78
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	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	OMIM:277700	Werner syndrome			310
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	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:0001609	Hoarse voice	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent		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	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: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	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
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:0001609	Hoarse voice	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
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	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
HP:0001608	HP:0001611	Nasal speech	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		1003
HP:0001608	HP:0009088	Speech articulation difficulties	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0001608	HP:0001611	Nasal speech	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0001608	HP:0025429	Abnormal cry	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0001608	HP:0025429	Abnormal cry	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001608	HP:0001611	Nasal speech	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0001608	HP:0001618	Dysphonia	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001608	HP:0025429	Abnormal cry	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0001608	HP:0001620	High pitched voice	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0001608	HP:0025429	Abnormal cry	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0001608	HP:0025429	Abnormal cry	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001608	HP:0001618	Dysphonia	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent		16
HP:0001608	HP:0001609	Hoarse voice	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	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:0001611	Nasal speech	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001608	HP:0001618	Dysphonia	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001608	HP:0025429	Abnormal cry	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001608	HP:0001618	Dysphonia	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27			702
HP:0001608	HP:0001618	Dysphonia	1	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type			702
HP:0001608	HP:0025429	Abnormal cry	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0001608	HP:0025429	Abnormal cry	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0001608	HP:0001611	Nasal speech	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001608	HP:0001618	Dysphonia	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0001608	HP:0025429	Abnormal cry	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001608	HP:0001611	Nasal speech	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0001608	HP:0001618	Dysphonia	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040281 - Very frequent		46
HP:0001608	HP:0025429	Abnormal cry	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related			46
HP:0001608	HP:0001620	High pitched voice	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0001608	HP:0025429	Abnormal cry	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0001608	HP:0031434	Abnormal speech prosody	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0001608	HP:0001618	Dysphonia	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001608	HP:0001618	Dysphonia	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0001608	HP:0031801	Vocal cord dysfunction	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0001608	HP:0001621	Weak voice	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0001608	HP:0001609	Hoarse voice	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040284 - Very rare
HP:0001608	HP:0001609	Hoarse voice	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0001608	HP:0001611	Nasal speech	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0001608	HP:0001611	Nasal speech	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0001608	HP:0001611	Nasal speech	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0001608	HP:0001618	Dysphonia	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0001608	HP:0001618	Dysphonia	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0001608	HP:0031801	Vocal cord dysfunction	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001608	HP:0009088	Speech articulation difficulties	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0001608	HP:0001611	Nasal speech	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001608	HP:0001618	Dysphonia	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001608	HP:0031801	Vocal cord dysfunction	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001608	HP:0001611	Nasal speech	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		1
HP:0001608	HP:0009088	Speech articulation difficulties	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0001608	HP:0100271	Hyponasal speech	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.		1
HP:0001608	HP:0001618	Dysphonia	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	HP:0040283 - Occasional		30
HP:0001608	HP:0031434	Abnormal speech prosody	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001608	HP:0001618	Dysphonia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001621	Weak voice	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0001608	HP:0031801	Vocal cord dysfunction	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0001608	HP:0001618	Dysphonia	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0001608	HP:0031801	Vocal cord dysfunction	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001608	HP:0001609	Hoarse voice	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0001608	HP:0001611	Nasal speech	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.		1
HP:0001608	HP:0001609	Hoarse voice	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent		14
HP:0001608	HP:0001609	Hoarse voice	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0001608	HP:0001618	Dysphonia	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0001608	HP:0001609	Hoarse voice	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0001608	HP:0001609	Hoarse voice	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0001608	HP:0031434	Abnormal speech prosody	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0001608	HP:0001618	Dysphonia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001609	Hoarse voice	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0001608	HP:0001618	Dysphonia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001608	HP:0001609	Hoarse voice	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001608	HP:0031801	Vocal cord dysfunction	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001608	HP:0031801	Vocal cord dysfunction	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001608	HP:0001618	Dysphonia	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0001608	HP:0031801	Vocal cord dysfunction	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0001608	HP:0001618	Dysphonia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001608	HP:0001618	Dysphonia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001608	HP:0001620	High pitched voice	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0001608	HP:0001611	Nasal speech	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0001608	HP:0025429	Abnormal cry	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001608	HP:0001609	Hoarse voice	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0001608	HP:0001609	Hoarse voice	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0001608	HP:0001620	High pitched voice	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040283 - Occasional		8
HP:0001608	HP:0001620	High pitched voice	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	HP:0040283 - Occasional		8
HP:0001608	HP:0001609	Hoarse voice	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0001608	HP:0001609	Hoarse voice	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional		1361
HP:0001608	HP:0031434	Abnormal speech prosody	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0001608	HP:0031434	Abnormal speech prosody	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0001608	HP:0031801	Vocal cord dysfunction	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0001608	HP:0001618	Dysphonia	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0001608	HP:0031801	Vocal cord dysfunction	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001608	HP:0001618	Dysphonia	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0001608	HP:0025429	Abnormal cry	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001608	HP:0001618	Dysphonia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0025429	Abnormal cry	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001608	HP:0001609	Hoarse voice	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001609	Hoarse voice	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0001608	HP:0001620	High pitched voice	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent		30
HP:0001608	HP:0009088	Speech articulation difficulties	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent		184
HP:0001608	HP:0031434	Abnormal speech prosody	1	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent		143
HP:0001608	HP:0009088	Speech articulation difficulties	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0001608	HP:0001618	Dysphonia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0001608	HP:0001621	Weak voice	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0001608	HP:0001618	Dysphonia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent		33
HP:0001608	HP:0001686	Loss of voice	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0001608	HP:0025429	Abnormal cry	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001608	HP:0025429	Abnormal cry	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0001608	HP:0001618	Dysphonia	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0001608	HP:0009088	Speech articulation difficulties	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		139
HP:0001608	HP:0009088	Speech articulation difficulties	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0001608	HP:0001621	Weak voice	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001608	HP:0031434	Abnormal speech prosody	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001608	HP:0001621	Weak voice	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0001608	HP:0031801	Vocal cord dysfunction	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001608	HP:0001609	Hoarse voice	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001608	HP:0031801	Vocal cord dysfunction	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001608	HP:0001609	Hoarse voice	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001608	HP:0001609	Hoarse voice	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001608	HP:0031801	Vocal cord dysfunction	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001608	HP:0001618	Dysphonia	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001608	HP:0025429	Abnormal cry	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001608	HP:0025429	Abnormal cry	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001608	HP:0001620	High pitched voice	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.		98
HP:0001608	HP:0001620	High pitched voice	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional		98
HP:0001608	HP:0031434	Abnormal speech prosody	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0001608	HP:0031801	Vocal cord dysfunction	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0001621	Weak voice	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.		1
HP:0001608	HP:0001611	Nasal speech	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0001608	HP:0009088	Speech articulation difficulties	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0001608	HP:0001618	Dysphonia	1	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type			13
HP:0001608	HP:0001618	Dysphonia	1	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.		13
HP:0001608	HP:0001618	Dysphonia	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001608	HP:0001618	Dysphonia	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0001608	HP:0001618	Dysphonia	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001608	HP:0001609	Hoarse voice	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0001608	HP:0001609	Hoarse voice	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0001608	HP:0001609	Hoarse voice	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent		240
HP:0001608	HP:0001611	Nasal speech	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001608	HP:0001609	Hoarse voice	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0001608	HP:0001609	Hoarse voice	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0001608	HP:0001609	Hoarse voice	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0001608	HP:0001620	High pitched voice	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional		12
HP:0001608	HP:0009088	Speech articulation difficulties	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional		12
HP:0001608	HP:0009088	Speech articulation difficulties	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0001608	HP:0009088	Speech articulation difficulties	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent		434
HP:0001608	HP:0009088	Speech articulation difficulties	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		434
HP:0001608	HP:0001611	Nasal speech	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0001608	HP:0031434	Abnormal speech prosody	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		434
HP:0001608	HP:0001618	Dysphonia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001608	HP:0001618	Dysphonia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001608	HP:0001609	Hoarse voice	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0001618	Dysphonia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001608	HP:0001618	Dysphonia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001608	HP:0001609	Hoarse voice	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0001618	Dysphonia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001608	HP:0001609	Hoarse voice	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001608	HP:0025429	Abnormal cry	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001608	HP:0001609	Hoarse voice	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0001608	HP:0001611	Nasal speech	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001608	HP:0001611	Nasal speech	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001608	HP:0001618	Dysphonia	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0001608	HP:0001609	Hoarse voice	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001608	HP:0001621	Weak voice	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0001608	HP:0001618	Dysphonia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001608	HP:0001620	High pitched voice	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0001608	HP:0001621	Weak voice	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0001608	HP:0001620	High pitched voice	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0001608	HP:0001618	Dysphonia	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0001608	HP:0009088	Speech articulation difficulties	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0001608	HP:0001609	Hoarse voice	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0001608	HP:0001609	Hoarse voice	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0001608	HP:0001609	Hoarse voice	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0001608	HP:0001609	Hoarse voice	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0001608	HP:0001620	High pitched voice	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001608	HP:0025429	Abnormal cry	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001608	HP:0001611	Nasal speech	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0001608	HP:0001618	Dysphonia	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0001608	HP:0001611	Nasal speech	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001609	Hoarse voice	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent		119
HP:0001608	HP:0001611	Nasal speech	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent		119
HP:0001608	HP:0001609	Hoarse voice	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0001608	HP:0009088	Speech articulation difficulties	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		99
HP:0001608	HP:0001611	Nasal speech	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		99
HP:0001608	HP:0001611	Nasal speech	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		99
HP:0001608	HP:0009088	Speech articulation difficulties	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0001608	HP:0009088	Speech articulation difficulties	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0001608	HP:0001609	Hoarse voice	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001608	HP:0001620	High pitched voice	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0001608	HP:0031801	Vocal cord dysfunction	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001608	HP:0001611	Nasal speech	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001608	HP:0001611	Nasal speech	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001608	HP:0001618	Dysphonia	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0001608	HP:0001618	Dysphonia	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0001608	HP:0025429	Abnormal cry	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001608	HP:0031801	Vocal cord dysfunction	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0001608	HP:0001618	Dysphonia	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0001608	HP:0001618	Dysphonia	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0001608	HP:0001618	Dysphonia	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0001608	HP:0025429	Abnormal cry	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001608	HP:0001609	Hoarse voice	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0001608	HP:0001609	Hoarse voice	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0001608	HP:0001609	Hoarse voice	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		27
HP:0001608	HP:0001609	Hoarse voice	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		23
HP:0001608	HP:0001609	Hoarse voice	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0001608	HP:0001609	Hoarse voice	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0001608	HP:0001609	Hoarse voice	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0001608	HP:0001609	Hoarse voice	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		41
HP:0001608	HP:0001609	Hoarse voice	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare		4
HP:0001608	HP:0025429	Abnormal cry	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0001608	HP:0025429	Abnormal cry	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0001608	HP:0001609	Hoarse voice	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0001608	HP:0001609	Hoarse voice	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		116
HP:0001608	HP:0025429	Abnormal cry	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0001608	HP:0001609	Hoarse voice	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		167
HP:0001608	HP:0001609	Hoarse voice	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent		135
HP:0001608	HP:0001609	Hoarse voice	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0001608	HP:0001609	Hoarse voice	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0001608	HP:0001611	Nasal speech	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0001608	HP:0001609	Hoarse voice	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0001608	HP:0001609	Hoarse voice	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031801	Vocal cord dysfunction	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001608	HP:0001620	High pitched voice	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0001608	HP:0001618	Dysphonia	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0001608	HP:0031801	Vocal cord dysfunction	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001608	HP:0001618	Dysphonia	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001608	HP:0001611	Nasal speech	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001608	HP:0031434	Abnormal speech prosody	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0001608	HP:0001609	Hoarse voice	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional		12
HP:0001608	HP:0001609	Hoarse voice	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0001608	HP:0025429	Abnormal cry	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001608	HP:0025429	Abnormal cry	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001608	HP:0001611	Nasal speech	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001608	HP:0009088	Speech articulation difficulties	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0001608	HP:0009088	Speech articulation difficulties	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0001608	HP:0025429	Abnormal cry	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001608	HP:0001609	Hoarse voice	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001608	HP:0001609	Hoarse voice	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001608	HP:0001621	Weak voice	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.		140
HP:0001608	HP:0009088	Speech articulation difficulties	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040283 - Occasional		140
HP:0001608	HP:0031434	Abnormal speech prosody	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0001608	HP:0009088	Speech articulation difficulties	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0001608	HP:0031434	Abnormal speech prosody	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0001608	HP:0001621	Weak voice	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent		140
HP:0001608	HP:0001609	Hoarse voice	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001608	HP:0001621	Weak voice	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001608	HP:0001609	Hoarse voice	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001608	HP:0001611	Nasal speech	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0001608	HP:0001618	Dysphonia	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0001608	HP:0001618	Dysphonia	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0001608	HP:0001620	High pitched voice	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB			1
HP:0001608	HP:0025429	Abnormal cry	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0001608	HP:0001611	Nasal speech	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0001608	HP:0001611	Nasal speech	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		228
HP:0001608	HP:0001620	High pitched voice	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0001608	HP:0001609	Hoarse voice	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001608	HP:0001611	Nasal speech	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001608	HP:0001618	Dysphonia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001608	HP:0001609	Hoarse voice	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0001609	Hoarse voice	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001608	HP:0001618	Dysphonia	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0001608	HP:0001618	Dysphonia	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0001608	HP:0001611	Nasal speech	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0001608	HP:0001611	Nasal speech	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0001608	HP:0001618	Dysphonia	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0001608	HP:0001611	Nasal speech	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0001608	HP:0001609	Hoarse voice	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001608	HP:0001611	Nasal speech	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001608	HP:0001611	Nasal speech	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001609	Hoarse voice	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0001618	Dysphonia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001608	HP:0001609	Hoarse voice	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001608	HP:0001620	High pitched voice	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001608	HP:0001620	High pitched voice	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.		8
HP:0001608	HP:0001618	Dysphonia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001608	HP:0009088	Speech articulation difficulties	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		12
HP:0001608	HP:0001611	Nasal speech	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		12
HP:0001608	HP:0009088	Speech articulation difficulties	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0001608	HP:0001611	Nasal speech	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		12
HP:0001608	HP:0009088	Speech articulation difficulties	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0001608	HP:0001620	High pitched voice	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001608	HP:0031801	Vocal cord dysfunction	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001608	HP:0001609	Hoarse voice	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0001608	HP:0001609	Hoarse voice	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0001608	HP:0001611	Nasal speech	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001608	HP:0001611	Nasal speech	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0001608	HP:0001620	High pitched voice	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001608	HP:0025429	Abnormal cry	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001608	HP:0001609	Hoarse voice	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001608	HP:0001611	Nasal speech	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001608	HP:0025429	Abnormal cry	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001608	HP:0001618	Dysphonia	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001608	HP:0001611	Nasal speech	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent		75
HP:0001608	HP:0001611	Nasal speech	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0001608	HP:0001611	Nasal speech	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001608	HP:0001611	Nasal speech	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0001608	HP:0001620	High pitched voice	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0001608	HP:0001609	Hoarse voice	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0001608	HP:0001618	Dysphonia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0009088	Speech articulation difficulties	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0001608	HP:0009088	Speech articulation difficulties	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0001608	HP:0025429	Abnormal cry	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0001608	HP:0009088	Speech articulation difficulties	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		4
HP:0001608	HP:0001611	Nasal speech	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		4
HP:0001608	HP:0009088	Speech articulation difficulties	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0001608	HP:0001611	Nasal speech	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		4
HP:0001608	HP:0009088	Speech articulation difficulties	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0001608	HP:0001618	Dysphonia	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0001608	HP:0001618	Dysphonia	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0001608	HP:0001618	Dysphonia	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0001608	HP:0031801	Vocal cord dysfunction	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0001608	HP:0009088	Speech articulation difficulties	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0001608	HP:0001609	Hoarse voice	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0001608	HP:0025429	Abnormal cry	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001608	HP:0001609	Hoarse voice	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0001608	HP:0001618	Dysphonia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001608	HP:0001611	Nasal speech	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0001608	HP:0001611	Nasal speech	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001608	HP:0031801	Vocal cord dysfunction	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0001618	Dysphonia	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0001608	HP:0001611	Nasal speech	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001608	HP:0001621	Weak voice	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.		27
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0001608	HP:0001609	Hoarse voice	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0001608	HP:0009088	Speech articulation difficulties	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0001608	HP:0009088	Speech articulation difficulties	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0001608	HP:0025429	Abnormal cry	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001608	HP:0001620	High pitched voice	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0001608	HP:0001620	High pitched voice	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0001608	HP:0001611	Nasal speech	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy			10
HP:0001608	HP:0001618	Dysphonia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0001608	HP:0001609	Hoarse voice	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0001608	HP:0001620	High pitched voice	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0001608	HP:0001611	Nasal speech	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0001608	HP:0001620	High pitched voice	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0001608	HP:0009088	Speech articulation difficulties	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0001608	HP:0001611	Nasal speech	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		337
HP:0001608	HP:0025429	Abnormal cry	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001608	HP:0001611	Nasal speech	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.		23
HP:0001608	HP:0001618	Dysphonia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0001608	HP:0001609	Hoarse voice	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001608	HP:0009088	Speech articulation difficulties	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.		82
HP:0001608	HP:0001611	Nasal speech	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0001608	HP:0031801	Vocal cord dysfunction	1	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies			79
HP:0001608	HP:0031801	Vocal cord dysfunction	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0001608	HP:0025429	Abnormal cry	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001608	HP:0001620	High pitched voice	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.		10
HP:0001608	HP:0001621	Weak voice	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0001608	HP:0031801	Vocal cord dysfunction	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001608	HP:0001620	High pitched voice	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0001608	HP:0001621	Weak voice	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001608	HP:0001618	Dysphonia	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001608	HP:0001611	Nasal speech	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001608	HP:0001609	Hoarse voice	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0001608	HP:0001611	Nasal speech	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001620	High pitched voice	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0001608	HP:0001620	High pitched voice	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0001608	HP:0025429	Abnormal cry	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001608	HP:0001609	Hoarse voice	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0001608	HP:0001611	Nasal speech	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001608	HP:0001611	Nasal speech	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		7
HP:0001608	HP:0001611	Nasal speech	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0001608	HP:0001618	Dysphonia	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0001608	HP:0001618	Dysphonia	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0001608	HP:0001618	Dysphonia	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0001608	HP:0031801	Vocal cord dysfunction	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0001608	HP:0001611	Nasal speech	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001611	Nasal speech	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001611	Nasal speech	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0001608	HP:0001609	Hoarse voice	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001608	HP:0001609	Hoarse voice	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0001608	HP:0025429	Abnormal cry	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001608	HP:0025429	Abnormal cry	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001608	HP:0001618	Dysphonia	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001608	HP:0001620	High pitched voice	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0001608	HP:0001618	Dysphonia	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0001608	HP:0031801	Vocal cord dysfunction	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0001608	HP:0031801	Vocal cord dysfunction	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0001608	HP:0001618	Dysphonia	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0001608	HP:0001609	Hoarse voice	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001608	HP:0001620	High pitched voice	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0001608	HP:0001620	High pitched voice	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040282 - Frequent		43
HP:0001608	HP:0001609	Hoarse voice	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0001608	HP:0001609	Hoarse voice	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0001608	HP:0001609	Hoarse voice	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0001608	HP:0001618	Dysphonia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001608	HP:0001609	Hoarse voice	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0001608	HP:0001609	Hoarse voice	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001608	HP:0001618	Dysphonia	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0001608	HP:0025429	Abnormal cry	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0001608	HP:0025429	Abnormal cry	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001608	HP:0001609	Hoarse voice	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001608	HP:0001618	Dysphonia	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001608	HP:0001618	Dysphonia	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0001608	HP:0001686	Loss of voice	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001608	HP:0001618	Dysphonia	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2			55
HP:0001608	HP:0001686	Loss of voice	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.		55
HP:0001608	HP:0001609	Hoarse voice	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.		55
HP:0001608	HP:0001618	Dysphonia	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0001608	HP:0001618	Dysphonia	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0001608	HP:0001618	Dysphonia	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3			147
HP:0001608	HP:0001686	Loss of voice	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.		147
HP:0001608	HP:0001609	Hoarse voice	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.		147
HP:0001608	HP:0001618	Dysphonia	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0001608	HP:0001686	Loss of voice	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.		129
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1			129
HP:0001608	HP:0001609	Hoarse voice	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.		129
HP:0001608	HP:0001618	Dysphonia	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0001608	HP:0001611	Nasal speech	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001620	High pitched voice	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0001608	HP:0001618	Dysphonia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001608	HP:0001620	High pitched voice	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001608	HP:0001609	Hoarse voice	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001608	HP:0025429	Abnormal cry	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001608	HP:0001620	High pitched voice	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001608	HP:0001611	Nasal speech	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001608	HP:0001620	High pitched voice	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0001608	HP:0025429	Abnormal cry	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0001608	HP:0001609	Hoarse voice	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0001608	HP:0001620	High pitched voice	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0001608	HP:0001611	Nasal speech	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0001608	HP:0009088	Speech articulation difficulties	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001608	HP:0001611	Nasal speech	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001608	HP:0001609	Hoarse voice	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001608	HP:0001618	Dysphonia	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0001608	HP:0025429	Abnormal cry	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0001608	HP:0001611	Nasal speech	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0001608	HP:0001611	Nasal speech	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0001608	HP:0025429	Abnormal cry	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001608	HP:0001611	Nasal speech	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001608	HP:0001618	Dysphonia	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0001609	Hoarse voice	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001608	HP:0025429	Abnormal cry	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001608	HP:0001611	Nasal speech	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0001608	HP:0001618	Dysphonia	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0001608	HP:0001618	Dysphonia	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001608	HP:0001609	Hoarse voice	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0001608	HP:0009088	Speech articulation difficulties	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0001608	HP:0001611	Nasal speech	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent		55
HP:0001608	HP:0001611	Nasal speech	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0001608	HP:0001621	Weak voice	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0001608	HP:0001618	Dysphonia	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA			9
HP:0001608	HP:0001618	Dysphonia	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001608	HP:0001611	Nasal speech	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0001608	HP:0025429	Abnormal cry	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001608	HP:0001620	High pitched voice	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0001608	HP:0001611	Nasal speech	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0001608	HP:0001609	Hoarse voice	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0001608	HP:0001611	Nasal speech	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent		19
HP:0001608	HP:0025429	Abnormal cry	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001608	HP:0001618	Dysphonia	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0001611	Nasal speech	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001608	HP:0031434	Abnormal speech prosody	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0001608	HP:0031434	Abnormal speech prosody	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0001608	HP:0001621	Weak voice	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.		35
HP:0001608	HP:0001611	Nasal speech	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001611	Nasal speech	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001608	HP:0001611	Nasal speech	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001608	HP:0009088	Speech articulation difficulties	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0001608	HP:0009088	Speech articulation difficulties	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0001608	HP:0025429	Abnormal cry	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001608	HP:0001611	Nasal speech	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001608	HP:0001618	Dysphonia	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0001608	HP:0001609	Hoarse voice	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0001608	HP:0001618	Dysphonia	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0001608	HP:0001611	Nasal speech	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0001608	HP:0001609	Hoarse voice	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001608	HP:0001611	Nasal speech	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0001608	HP:0001620	High pitched voice	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0001608	HP:0001618	Dysphonia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0001608	HP:0009088	Speech articulation difficulties	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		50
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0001608	HP:0001611	Nasal speech	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0001608	HP:0031434	Abnormal speech prosody	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040283 - Occasional		50
HP:0001608	HP:0009088	Speech articulation difficulties	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent		1
HP:0001608	HP:0001620	High pitched voice	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY			12
HP:0001608	HP:0001618	Dysphonia	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0001608	HP:0001618	Dysphonia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001609	Hoarse voice	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001608	HP:0031801	Vocal cord dysfunction	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001608	HP:0001621	Weak voice	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0001608	HP:0001621	Weak voice	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.		9
HP:0001608	HP:0001620	High pitched voice	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001608	HP:0001611	Nasal speech	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001608	HP:0025429	Abnormal cry	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001608	HP:0001621	Weak voice	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001608	HP:0001611	Nasal speech	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0001608	HP:0025429	Abnormal cry	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001608	HP:0001618	Dysphonia	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001608	HP:0001618	Dysphonia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001608	HP:0100271	Hyponasal speech	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001609	Hoarse voice	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001621	Weak voice	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.		7
HP:0001608	HP:0001611	Nasal speech	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001608	HP:0001611	Nasal speech	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040282 - Frequent		32
HP:0001608	HP:0001611	Nasal speech	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001608	HP:0001611	Nasal speech	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0001608	HP:0001611	Nasal speech	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0001608	HP:0001611	Nasal speech	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0001608	HP:0001618	Dysphonia	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0001608	HP:0001618	Dysphonia	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0001608	HP:0001618	Dysphonia	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0001608	HP:0001618	Dysphonia	1	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type			42
HP:0001608	HP:0001609	Hoarse voice	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0001608	HP:0001621	Weak voice	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0001608	HP:0001609	Hoarse voice	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001608	HP:0031801	Vocal cord dysfunction	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0001608	HP:0001618	Dysphonia	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0001608	HP:0001609	Hoarse voice	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031801	Vocal cord dysfunction	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001608	HP:0001621	Weak voice	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		140
HP:0001608	HP:0009088	Speech articulation difficulties	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent		140
HP:0001608	HP:0001611	Nasal speech	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional		140
HP:0001608	HP:0009088	Speech articulation difficulties	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0001608	HP:0009088	Speech articulation difficulties	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0001608	HP:0001618	Dysphonia	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0001608	HP:0001611	Nasal speech	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001608	HP:0001609	Hoarse voice	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001608	HP:0025429	Abnormal cry	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001608	HP:0001611	Nasal speech	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001608	HP:0001609	Hoarse voice	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001608	HP:0025429	Abnormal cry	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001608	HP:0031801	Vocal cord dysfunction	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0001608	HP:0001609	Hoarse voice	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0001608	HP:0001609	Hoarse voice	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0001608	HP:0001609	Hoarse voice	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0001608	HP:0031801	Vocal cord dysfunction	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0001608	HP:0001620	High pitched voice	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.		78
HP:0001608	HP:0001621	Weak voice	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001608	HP:0001620	High pitched voice	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0001608	HP:0025429	Abnormal cry	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001608	HP:0001620	High pitched voice	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0001608	HP:0031434	Abnormal speech prosody	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001621	Weak voice	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0001608	HP:0031434	Abnormal speech prosody	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0031434	Abnormal speech prosody	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001608	HP:0010300	Abnormally low-pitched voice	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0001608	HP:0031801	Vocal cord dysfunction	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001608	HP:0001609	Hoarse voice	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001608	HP:0001609	Hoarse voice	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0001608	HP:0001609	Hoarse voice	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0001608	HP:0025429	Abnormal cry	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0001608	HP:0025429	Abnormal cry	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0001608	HP:0001618	Dysphonia	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0001608	HP:0025429	Abnormal cry	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001608	HP:0001618	Dysphonia	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0001608	HP:0001620	High pitched voice	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001608	HP:0001618	Dysphonia	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.		66
HP:0001608	HP:0001618	Dysphonia	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040281 - Very frequent		66
HP:0001608	HP:0001618	Dysphonia	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	HP:0003584 - Late onset	113
HP:0001608	HP:0001611	Nasal speech	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001608	HP:0009088	Speech articulation difficulties	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0001608	HP:0001611	Nasal speech	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001611	Nasal speech	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001608	HP:0001611	Nasal speech	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		33
HP:0001608	HP:0001611	Nasal speech	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14			33
HP:0001608	HP:0001618	Dysphonia	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0025429	Abnormal cry	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001608	HP:0001611	Nasal speech	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001608	HP:0025429	Abnormal cry	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001608	HP:0031801	Vocal cord dysfunction	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0001608	HP:0001618	Dysphonia	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0001608	HP:0001618	Dysphonia	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0001608	HP:0031801	Vocal cord dysfunction	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0001608	HP:0001618	Dysphonia	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0001608	HP:0001618	Dysphonia	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001608	HP:0025429	Abnormal cry	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001608	HP:0031434	Abnormal speech prosody	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0001608	HP:0001609	Hoarse voice	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001608	HP:0001618	Dysphonia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001608	HP:0001620	High pitched voice	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0001608	HP:0001620	High pitched voice	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0001608	HP:0001611	Nasal speech	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001608	HP:0001611	Nasal speech	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040281 - Very frequent		10
HP:0001608	HP:0001618	Dysphonia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0001608	HP:0001620	High pitched voice	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0001608	HP:0031801	Vocal cord dysfunction	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001608	HP:0025429	Abnormal cry	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001608	HP:0031436	Increased pitch variability of speech	2	CL E G H
HP:0001608	HP:0025430	High-pitched cry	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0001608	HP:0001612	Weak cry	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0001608	HP:0001612	Weak cry	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional		89
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0001608	HP:0001615	Hoarse cry	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0001608	HP:0001612	Weak cry	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0001608	HP:0001615	Hoarse cry	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0001608	HP:0001612	Weak cry	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0001608	HP:0025430	High-pitched cry	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0001608	HP:0025430	High-pitched cry	2	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0001608	HP:0012049	Laryngeal dystonia	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001608	HP:0001612	Weak cry	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001608	HP:0001605	Vocal cord paralysis	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional		14
HP:0001608	HP:0001605	Vocal cord paralysis	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional		14
HP:0001608	HP:0001605	Vocal cord paralysis	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional		14
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional		25
HP:0001608	HP:0001605	Vocal cord paralysis	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001608	HP:0001612	Weak cry	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0001608	HP:0001612	Weak cry	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001608	HP:0001612	Weak cry	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001608	HP:0001612	Weak cry	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0001608	HP:0001612	Weak cry	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0001608	HP:0001612	Weak cry	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001608	HP:0012049	Laryngeal dystonia	2	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.		702
HP:0001608	HP:0012049	Laryngeal dystonia	2	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040281 - Very frequent		702
HP:0001608	HP:0001612	Weak cry	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0001608	HP:0001612	Weak cry	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001608	HP:0001612	Weak cry	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0001608	HP:0001612	Weak cry	2	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.		46
HP:0001608	HP:0200046	Cat cry	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0001608	HP:0031435	Monotonic speech	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0001608	HP:0001605	Vocal cord paralysis	2	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0001608	HP:0001605	Vocal cord paralysis	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001608	HP:0001615	Hoarse cry	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001608	HP:0001605	Vocal cord paralysis	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001608	HP:0031435	Monotonic speech	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001608	HP:0001605	Vocal cord paralysis	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		44
HP:0001608	HP:0001605	Vocal cord paralysis	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001608	HP:0001615	Hoarse cry	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0001608	HP:0031435	Monotonic speech	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0001608	HP:0001605	Vocal cord paralysis	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001608	HP:0001605	Vocal cord paralysis	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		107
HP:0001608	HP:0001605	Vocal cord paralysis	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		112
HP:0001608	HP:0001612	Weak cry	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001608	HP:0001615	Hoarse cry	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001608	HP:0031435	Monotonic speech	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0001608	HP:0031435	Monotonic speech	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0001608	HP:0001605	Vocal cord paralysis	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		301
HP:0001608	HP:0001605	Vocal cord paralysis	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		68
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0001608	HP:0025430	High-pitched cry	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001608	HP:0001612	Weak cry	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0001608	HP:0012049	Laryngeal dystonia	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0001608	HP:0001612	Weak cry	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001608	HP:0001612	Weak cry	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0001608	HP:0031435	Monotonic speech	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0001608	HP:0001605	Vocal cord paralysis	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001608	HP:0001605	Vocal cord paralysis	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001608	HP:0001605	Vocal cord paralysis	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001608	HP:0001612	Weak cry	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0001608	HP:0001612	Weak cry	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001608	HP:0031435	Monotonic speech	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0001608	HP:0001605	Vocal cord paralysis	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0012049	Laryngeal dystonia	2	GNAL CL E G H	2774	4388	ORPHA:329466	Autosomal dominant focal dystonia, DYT25 type	HP:0040282 - Frequent		13
HP:0001608	HP:0012049	Laryngeal dystonia	2	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25	.		13
HP:0001608	HP:0012049	Laryngeal dystonia	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0001608	HP:0012049	Laryngeal dystonia	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0001608	HP:0012049	Laryngeal dystonia	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0001608	HP:0001605	Vocal cord paralysis	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001608	HP:0001612	Weak cry	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0001608	HP:0001612	Weak cry	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001608	HP:0001605	Vocal cord paralysis	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001608	HP:0012049	Laryngeal dystonia	2	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0001608	HP:0001612	Weak cry	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001608	HP:0001605	Vocal cord paralysis	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		202
HP:0001608	HP:0012049	Laryngeal dystonia	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.		11
HP:0001608	HP:0001612	Weak cry	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001608	HP:0001615	Hoarse cry	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0001608	HP:0001615	Hoarse cry	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0001608	HP:0001612	Weak cry	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0001608	HP:0001615	Hoarse cry	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.		116
HP:0001608	HP:0001612	Weak cry	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.		116
HP:0001608	HP:0001615	Hoarse cry	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0001608	HP:0001612	Weak cry	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001608	HP:0001615	Hoarse cry	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0001608	HP:0001615	Hoarse cry	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0001608	HP:0001605	Vocal cord paralysis	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		645
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0001608	HP:0001605	Vocal cord paralysis	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001608	HP:0031435	Monotonic speech	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0001608	HP:0001612	Weak cry	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001608	HP:0001612	Weak cry	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001608	HP:0001612	Weak cry	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001608	HP:0005934	Imperfect vocal cord adduction	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001608	HP:0001605	Vocal cord paralysis	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001608	HP:0001605	Vocal cord paralysis	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		84
HP:0001608	HP:0001605	Vocal cord paralysis	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		4
HP:0001608	HP:0025430	High-pitched cry	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0001608	HP:0001615	Hoarse cry	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001608	HP:0001605	Vocal cord paralysis	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001608	HP:0001605	Vocal cord paralysis	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0001608	HP:0001605	Vocal cord paralysis	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001608	HP:0001605	Vocal cord paralysis	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0001608	HP:0001612	Weak cry	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001608	HP:0001612	Weak cry	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001608	HP:0001612	Weak cry	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0001608	HP:0001605	Vocal cord paralysis	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		1952
HP:0001608	HP:0001612	Weak cry	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001608	HP:0001605	Vocal cord paralysis	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0001608	HP:0001612	Weak cry	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001608	HP:0001615	Hoarse cry	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0001608	HP:0001612	Weak cry	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0001608	HP:0001615	Hoarse cry	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0001608	HP:0001605	Vocal cord paralysis	2	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional		79
HP:0001608	HP:0001605	Vocal cord paralysis	2	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0001608	HP:0025430	High-pitched cry	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001608	HP:0001605	Vocal cord paralysis	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001608	HP:0001612	Weak cry	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001608	HP:0012049	Laryngeal dystonia	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0001608	HP:0001605	Vocal cord paralysis	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0001608	HP:0001612	Weak cry	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001608	HP:0001612	Weak cry	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0001608	HP:0001605	Vocal cord paralysis	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		572
HP:0001608	HP:0001605	Vocal cord paralysis	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		572
HP:0001608	HP:0001615	Hoarse cry	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001608	HP:0001612	Weak cry	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040282 - Frequent		1200
HP:0001608	HP:0001612	Weak cry	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001608	HP:0001605	Vocal cord paralysis	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		304
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		55
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.		55
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		237
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		237
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		147
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.		147
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		129
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.		129
HP:0001608	HP:0001605	Vocal cord paralysis	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		129
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001608	HP:0001612	Weak cry	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001608	HP:0200046	Cat cry	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0001608	HP:0001605	Vocal cord paralysis	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0001608	HP:0001605	Vocal cord paralysis	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0001608	HP:0001612	Weak cry	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0001608	HP:0001612	Weak cry	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0001612	Weak cry	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001608	HP:0001605	Vocal cord paralysis	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001608	HP:0001605	Vocal cord paralysis	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001608	HP:0001605	Vocal cord paralysis	2	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.		9
HP:0001608	HP:0001612	Weak cry	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001608	HP:0001612	Weak cry	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0031435	Monotonic speech	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0001608	HP:0031435	Monotonic speech	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0001608	HP:0001612	Weak cry	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0001608	HP:0012049	Laryngeal dystonia	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0001608	HP:0001605	Vocal cord paralysis	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		1129
HP:0001608	HP:0001605	Vocal cord paralysis	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		508
HP:0001608	HP:0001612	Weak cry	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001608	HP:0001612	Weak cry	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0001608	HP:0012049	Laryngeal dystonia	2	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	.		42
HP:0001608	HP:0012049	Laryngeal dystonia	2	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional		42
HP:0001608	HP:0001605	Vocal cord paralysis	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		131
HP:0001608	HP:0001605	Vocal cord paralysis	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		171
HP:0001608	HP:0001612	Weak cry	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001608	HP:0001612	Weak cry	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001608	HP:0001605	Vocal cord paralysis	2	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional		2
HP:0001608	HP:0001605	Vocal cord paralysis	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0001608	HP:0001612	Weak cry	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional		4
HP:0001608	HP:0001605	Vocal cord paralysis	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001608	HP:0001615	Hoarse cry	2	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0001608	HP:0001615	Hoarse cry	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0001608	HP:0025431	Staccato cry	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0001608	HP:0001612	Weak cry	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001608	HP:0012049	Laryngeal dystonia	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040281 - Very frequent		66
HP:0001608	HP:0001612	Weak cry	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001608	HP:0001612	Weak cry	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001608	HP:0001605	Vocal cord paralysis	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		490
HP:0001608	HP:0001605	Vocal cord paralysis	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional		490
HP:0001608	HP:0012049	Laryngeal dystonia	2	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0001608	HP:0012049	Laryngeal dystonia	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0001608	HP:0001612	Weak cry	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001608	HP:0200046	Cat cry	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001608	HP:0031435	Monotonic speech	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0001608	HP:0007024	Pseudobulbar paralysis	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0001608	HP:0001605	Vocal cord paralysis	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001608	HP:0012820	Bilateral vocal cord paralysis	3	CL E G H
HP:0001608	HP:0001604	Vocal cord paresis	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001608	HP:0001604	Vocal cord paresis	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001608	HP:0001604	Vocal cord paresis	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001608	HP:0001604	Vocal cord paresis	3	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.		108
HP:0001608	HP:0001604	Vocal cord paresis	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001608	HP:0001604	Vocal cord paresis	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001608	HP:0001604	Vocal cord paresis	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001608	HP:0001604	Vocal cord paresis	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001608	HP:0001604	Vocal cord paresis	3	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001608	HP:0001604	Vocal cord paresis	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0001608	HP:0001604	Vocal cord paresis	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001608	HP:0008757	Unilateral vocal cord paralysis	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001608	HP:0001604	Vocal cord paresis	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	HP:0040283 - Occasional		170
HP:0001608	HP:0001604	Vocal cord paresis	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001608	HP:0001604	Vocal cord paresis	3	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.		9
HP:0001608	HP:0001604	Vocal cord paresis	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001608	HP:0012822	Bilateral vocal cord paresis	4	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001608	HP:0012821	Unilateral vocal cord paresis	4	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2