Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0006824	HP:0006824	Cranial nerve paralysis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia		164
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma		184
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel		88
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel		139
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0006824	HP:0006824	Cranial nerve paralysis	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0006824	HP:0006824	Cranial nerve paralysis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0006824	HP:0006824	Cranial nerve paralysis	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0006824	HP:0006824	Cranial nerve paralysis	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0006824	HP:0006824	Cranial nerve paralysis	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0006824	HP:0006824	Cranial nerve paralysis	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy		121
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia		68
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0006824	HP:0006824	Cranial nerve paralysis	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent	81
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis		124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type		125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata		125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome		125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0006824	HP:0006824	Cranial nerve paralysis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency		72
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent	5
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0006824	HP:0006824	Cranial nerve paralysis	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0006824	HP:0006824	Cranial nerve paralysis	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0006824	HP:0006824	Cranial nerve paralysis	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional	79
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0006824	HP:0006824	Cranial nerve paralysis	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent	948
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis	HP:0040281 - Very frequent	291
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0006824	HP:0006824	Cranial nerve paralysis	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0006824	HP:0006824	Cranial nerve paralysis	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0006824	HP:0006824	Cranial nerve paralysis	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040283 - Occasional	87
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata		26
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis		26
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5		20
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0006824	HP:0006824	Cranial nerve paralysis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0006824	HP:0006824	Cranial nerve paralysis	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0006824	HP:0006824	Cranial nerve paralysis	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0006824	HP:0006824	Cranial nerve paralysis	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0006824	HP:0006824	Cranial nerve paralysis	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0006824	HP:0006824	Cranial nerve paralysis	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0006824	HP:0006824	Cranial nerve paralysis	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0006824	HP:0006824	Cranial nerve paralysis	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0006824	HP:0006824	Cranial nerve paralysis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0006824	HP:0006824	Cranial nerve paralysis	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0006824	HP:0006824	Cranial nerve paralysis	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0006824	HP:0010628	Facial palsy	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0006824	HP:0010628	Facial palsy	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0006824	HP:0010628	Facial palsy	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0006824	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0006824	HP:0010628	Facial palsy	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0006824	HP:0010628	Facial palsy	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0006824	HP:0010628	Facial palsy	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0006824	HP:0010628	Facial palsy	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0006824	HP:0010628	Facial palsy	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0006824	HP:0010628	Facial palsy	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0006824	HP:0007011	Fourth cranial nerve palsy	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0006824	HP:0006897	Abducens palsy	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0006824	HP:0010628	Facial palsy	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0006824	HP:0010628	Facial palsy	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0006824	HP:0010628	Facial palsy	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0006824	HP:0010628	Facial palsy	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0006824	HP:0010628	Facial palsy	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0006824	HP:0010628	Facial palsy	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0006824	HP:0010628	Facial palsy	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	164
HP:0006824	HP:0010628	Facial palsy	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0006824	HP:0010628	Facial palsy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0006824	HP:0010628	Facial palsy	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0006824	HP:0010628	Facial palsy	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0006824	HP:0010628	Facial palsy	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0006824	HP:0010628	Facial palsy	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0006824	HP:0007011	Fourth cranial nerve palsy	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional	184
HP:0006824	HP:0010628	Facial palsy	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0006824	HP:0010628	Facial palsy	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0006824	HP:0010628	Facial palsy	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0006824	HP:0010628	Facial palsy	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	1
HP:0006824	HP:0010628	Facial palsy	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0006824	HP:0010628	Facial palsy	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0006824	HP:0010628	Facial palsy	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	HP:0040283 - Occasional	323
HP:0006824	HP:0006897	Abducens palsy	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0006824	HP:0006897	Abducens palsy	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0006824	HP:0007011	Fourth cranial nerve palsy	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0006824	HP:0006897	Abducens palsy	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0006824	HP:0007011	Fourth cranial nerve palsy	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0006824	HP:0010628	Facial palsy	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0006824	HP:0010628	Facial palsy	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0006824	HP:0010628	Facial palsy	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0006824	HP:0010628	Facial palsy	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0006824	HP:0010628	Facial palsy	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0006824	HP:0010628	Facial palsy	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	35
HP:0006824	HP:0010628	Facial palsy	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0006824	HP:0010628	Facial palsy	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0006824	HP:0010628	Facial palsy	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0006824	HP:0010628	Facial palsy	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0006824	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0006824	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.	88
HP:0006824	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0006824	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0006824	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0006824	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0006824	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0006824	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0006824	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0006824	HP:0010628	Facial palsy	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0006824	HP:0010628	Facial palsy	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0006824	HP:0010628	Facial palsy	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0006824	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional	6
HP:0006824	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0006824	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0006824	HP:0010628	Facial palsy	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0006824	HP:0010628	Facial palsy	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0006824	HP:0010628	Facial palsy	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0006824	HP:0010628	Facial palsy	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0006824	HP:0010628	Facial palsy	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0006824	HP:0010628	Facial palsy	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0006824	HP:0010628	Facial palsy	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0006824	HP:0010628	Facial palsy	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0006824	HP:0010628	Facial palsy	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0006824	HP:0010628	Facial palsy	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0006824	HP:0010628	Facial palsy	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0006824	HP:0010628	Facial palsy	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	9
HP:0006824	HP:0010628	Facial palsy	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0006824	HP:0010628	Facial palsy	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0006824	HP:0010628	Facial palsy	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional	103
HP:0006824	HP:0010628	Facial palsy	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0006824	HP:0010628	Facial palsy	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0006824	HP:0010628	Facial palsy	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0006824	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0006824	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	135
HP:0006824	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0006824	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0006824	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0006824	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0006824	HP:0010628	Facial palsy	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0006824	HP:0010628	Facial palsy	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0006824	HP:0010628	Facial palsy	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent	121
HP:0006824	HP:0010628	Facial palsy	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0006824	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0006824	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0006824	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0006824	HP:0010628	Facial palsy	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional	68
HP:0006824	HP:0010628	Facial palsy	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0006824	HP:0010628	Facial palsy	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0006824	HP:0010628	Facial palsy	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0006824	HP:0010628	Facial palsy	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0006824	HP:0010628	Facial palsy	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0006824	HP:0010628	Facial palsy	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0006824	HP:0010628	Facial palsy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0006824	HP:0010628	Facial palsy	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0006824	HP:0010628	Facial palsy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0006824	HP:0010628	Facial palsy	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0006824	HP:0010628	Facial palsy	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	124
HP:0006824	HP:0010628	Facial palsy	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0006824	HP:0010628	Facial palsy	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0006824	HP:0010628	Facial palsy	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0006824	HP:0010628	Facial palsy	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0006824	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0006824	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0006824	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0006824	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0006824	HP:0010628	Facial palsy	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0006824	HP:0010628	Facial palsy	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0006824	HP:0010628	Facial palsy	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0006824	HP:0010628	Facial palsy	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0006824	HP:0010628	Facial palsy	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0006824	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0006824	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0006824	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0006824	HP:0010628	Facial palsy	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0006824	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0006824	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent	124
HP:0006824	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.	124
HP:0006824	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional	125
HP:0006824	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent	125
HP:0006824	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional	125
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	63
HP:0006824	HP:0010628	Facial palsy	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0006824	HP:0006897	Abducens palsy	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0006824	HP:0007011	Fourth cranial nerve palsy	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0006824	HP:0010628	Facial palsy	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0006824	HP:0010628	Facial palsy	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0006824	HP:0010628	Facial palsy	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0006824	HP:0010628	Facial palsy	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0006824	HP:0010628	Facial palsy	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0006824	HP:0010628	Facial palsy	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0006824	HP:0010628	Facial palsy	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0006824	HP:0010628	Facial palsy	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0006824	HP:0010628	Facial palsy	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0006824	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0006824	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0006824	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0006824	HP:0010628	Facial palsy	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0006824	HP:0010628	Facial palsy	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0006824	HP:0010628	Facial palsy	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0006824	HP:0010628	Facial palsy	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0006824	HP:0010628	Facial palsy	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0006824	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0006824	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0006824	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0006824	HP:0010628	Facial palsy	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0006824	HP:0006897	Abducens palsy	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0006824	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0006824	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0006824	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0006824	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0006824	HP:0010628	Facial palsy	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0006824	HP:0010628	Facial palsy	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0006824	HP:0010628	Facial palsy	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0006824	HP:0010628	Facial palsy	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0006824	HP:0010628	Facial palsy	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0006824	HP:0010628	Facial palsy	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0006824	HP:0010628	Facial palsy	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0006824	HP:0010628	Facial palsy	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	169
HP:0006824	HP:0010628	Facial palsy	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	75
HP:0006824	HP:0010628	Facial palsy	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	4
HP:0006824	HP:0010628	Facial palsy	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	65
HP:0006824	HP:0010628	Facial palsy	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	66
HP:0006824	HP:0010628	Facial palsy	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	46
HP:0006824	HP:0010628	Facial palsy	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	59
HP:0006824	HP:0010628	Facial palsy	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	62
HP:0006824	HP:0010628	Facial palsy	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	82
HP:0006824	HP:0010628	Facial palsy	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	106
HP:0006824	HP:0010628	Facial palsy	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	47
HP:0006824	HP:0010628	Facial palsy	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	99
HP:0006824	HP:0010628	Facial palsy	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	98
HP:0006824	HP:0010628	Facial palsy	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0006824	HP:0010628	Facial palsy	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0006824	HP:0010628	Facial palsy	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	759
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent	759
HP:0006824	HP:0010628	Facial palsy	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0006824	HP:0010628	Facial palsy	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0006824	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0006824	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0006824	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0006824	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0006824	HP:0010628	Facial palsy	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0006824	HP:0010628	Facial palsy	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0006824	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0006824	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0006824	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0006824	HP:0010628	Facial palsy	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0006824	HP:0010628	Facial palsy	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0006824	HP:0006897	Abducens palsy	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0006824	HP:0010628	Facial palsy	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0006824	HP:0010628	Facial palsy	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0006824	HP:0010628	Facial palsy	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0006824	HP:0010628	Facial palsy	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0006824	HP:0010628	Facial palsy	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0006824	HP:0010628	Facial palsy	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0006824	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0006824	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0006824	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0006824	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0006824	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent	86
HP:0006824	HP:0010628	Facial palsy	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0006824	HP:0010628	Facial palsy	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0006824	HP:0010628	Facial palsy	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0006824	HP:0010628	Facial palsy	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0006824	HP:0010628	Facial palsy	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0006824	HP:0010628	Facial palsy	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0006824	HP:0010628	Facial palsy	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0006824	HP:0010628	Facial palsy	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0006824	HP:0010628	Facial palsy	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0006824	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0006824	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	50
HP:0006824	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0006824	HP:0010628	Facial palsy	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0006824	HP:0010628	Facial palsy	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0006824	HP:0010628	Facial palsy	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.	2
HP:0006824	HP:0010628	Facial palsy	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0010628	Facial palsy	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0006824	HP:0010628	Facial palsy	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0006824	HP:0010628	Facial palsy	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0006824	HP:0010628	Facial palsy	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0006824	HP:0010628	Facial palsy	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0006824	HP:0010628	Facial palsy	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0006824	HP:0010628	Facial palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0006824	HP:0010628	Facial palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0006824	HP:0010628	Facial palsy	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0006824	HP:0010628	Facial palsy	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0006824	HP:0010628	Facial palsy	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0006824	HP:0010628	Facial palsy	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0006824	HP:0010628	Facial palsy	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0006824	HP:0010628	Facial palsy	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0006824	HP:0010628	Facial palsy	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0010628	Facial palsy	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.	2
HP:0006824	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0006824	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent	26
HP:0006824	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent	26
HP:0006824	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0006824	HP:0010628	Facial palsy	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0006824	HP:0010628	Facial palsy	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0006824	HP:0010628	Facial palsy	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.	3
HP:0006824	HP:0010628	Facial palsy	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0006824	HP:0010628	Facial palsy	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0006824	HP:0010628	Facial palsy	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0006824	HP:0010628	Facial palsy	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0006824	HP:0010628	Facial palsy	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0006824	HP:0010628	Facial palsy	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0006824	HP:0010628	Facial palsy	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0006824	HP:0006897	Abducens palsy	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0006824	HP:0010628	Facial palsy	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0006824	HP:0010628	Facial palsy	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0006824	HP:0010628	Facial palsy	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0006824	HP:0010628	Facial palsy	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0006824	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0006824	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0006824	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0006824	HP:0006897	Abducens palsy	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0006824	HP:0010628	Facial palsy	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0006824	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0006824	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0006824	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0006824	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0006824	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0006824	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0006824	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0006824	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0006824	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0006824	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0006824	HP:0010628	Facial palsy	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0006824	HP:0010628	Facial palsy	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0006824	HP:0006897	Abducens palsy	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0006824	HP:0010628	Facial palsy	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0006824	HP:0006897	Abducens palsy	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0006824	HP:0010628	Facial palsy	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0006824	HP:0010628	Facial palsy	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0006824	HP:0010628	Facial palsy	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional	64
HP:0006824	HP:0010628	Facial palsy	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0006824	HP:0010628	Facial palsy	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0006824	HP:0010628	Facial palsy	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0006824	HP:0010628	Facial palsy	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional
HP:0006824	HP:0012246	Oculomotor nerve palsy	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional	73
HP:0006824	HP:0010628	Facial palsy	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0006824	HP:0010628	Facial palsy	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0006824	HP:0010628	Facial palsy	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	HP:0040283 - Occasional	63
HP:0006824	HP:0006897	Abducens palsy	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0006824	HP:0010628	Facial palsy	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0006824	HP:0010628	Facial palsy	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0006824	HP:0010628	Facial palsy	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0006824	HP:0010628	Facial palsy	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0006824	HP:0010628	Facial palsy	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0006824	HP:0001349	Facial diplegia	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0006824	HP:0001349	Facial diplegia	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0006824	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0006824	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0006824	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0006824	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0006824	HP:0001349	Facial diplegia	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.	2
HP:0006824	HP:0001349	Facial diplegia	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0006824	HP:0004661	Frontalis muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0006824	HP:0001349	Facial diplegia	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0006824	HP:0001349	Facial diplegia	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0006824	HP:0004661	Frontalis muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0006824	HP:0001349	Facial diplegia	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0006824	HP:0001349	Facial diplegia	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0006824	HP:0004661	Frontalis muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0006824	HP:0001349	Facial diplegia	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0006824	HP:0001349	Facial diplegia	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0006824	HP:0001349	Facial diplegia	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional	46
HP:0006824	HP:0001349	Facial diplegia	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0006824	HP:0001349	Facial diplegia	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0006824	HP:0001349	Facial diplegia	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0006824	HP:0001349	Facial diplegia	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0006824	HP:0012799	Unilateral facial palsy	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0006824	HP:0001349	Facial diplegia	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0006824	HP:0001349	Facial diplegia	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0006824	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0006824	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0006824	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0006824	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0006824	HP:0001349	Facial diplegia	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0006824	HP:0001349	Facial diplegia	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0006824	HP:0001349	Facial diplegia	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0006824	HP:0001349	Facial diplegia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0006824	HP:0001349	Facial diplegia	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0006824	HP:0004661	Frontalis muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0006824	HP:0001349	Facial diplegia	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0006824	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0006824	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0006824	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0006824	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0006824	HP:0001349	Facial diplegia	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0006824	HP:0430025	Bilateral facial palsy	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0006824	HP:0001349	Facial diplegia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0006824	HP:0001349	Facial diplegia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0006824	HP:0001349	Facial diplegia	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0006824	HP:0001349	Facial diplegia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0006824	HP:0001349	Facial diplegia	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0006824	HP:0001349	Facial diplegia	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0006824	HP:0001349	Facial diplegia	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0006824	HP:0001349	Facial diplegia	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0006824	HP:0001349	Facial diplegia	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0006824	HP:0004661	Frontalis muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0006824	HP:0004661	Frontalis muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0006824	HP:0001349	Facial diplegia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0006824	HP:0001349	Facial diplegia	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0006824	HP:0004661	Frontalis muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0006824	HP:0004661	Frontalis muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0006824	HP:0001349	Facial diplegia	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0006824	HP:0001349	Facial diplegia	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0006824	HP:0001349	Facial diplegia	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0006824	HP:0001349	Facial diplegia	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0006824	HP:0012799	Unilateral facial palsy	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0006824	HP:0430025	Bilateral facial palsy	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0006824	HP:0004661	Frontalis muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0006824	HP:0001349	Facial diplegia	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0006824	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0006824	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0006824	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0006824	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0006824	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0006824	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0006824	HP:0001349	Facial diplegia	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0006824	HP:0001349	Facial diplegia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0006824	HP:0004661	Frontalis muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0006824	HP:0001349	Facial diplegia	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0006824	HP:0012799	Unilateral facial palsy	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0006824	HP:0001349	Facial diplegia	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0006824	HP:0001349	Facial diplegia	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0006824	HP:0007188	Congenital facial diplegia	3	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0006824	HP:0007188	Congenital facial diplegia	3	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis