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:0025429	HP:0025429	Abnormal cry	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0025429	HP:0025429	Abnormal cry	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0025429	HP:0025429	Abnormal cry	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0025429	HP:0025429	Abnormal cry	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0025429	HP:0025429	Abnormal cry	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease		48
HP:0025429	HP:0025429	Abnormal cry	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0025429	HP:0025429	Abnormal cry	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0025429	HP:0025429	Abnormal cry	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0025429	HP:0025429	Abnormal cry	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0025429	HP:0025429	Abnormal cry	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0025429	HP:0025429	Abnormal cry	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0025429	HP:0025429	Abnormal cry	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0025429	HP:0025429	Abnormal cry	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0025429	HP:0025429	Abnormal cry	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0025429	HP:0025429	Abnormal cry	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0025429	HP:0025429	Abnormal cry	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0025429	HP:0025429	Abnormal cry	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0025429	HP:0025429	Abnormal cry	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0025429	HP:0025429	Abnormal cry	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0025429	HP:0025429	Abnormal cry	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0025429	HP:0025429	Abnormal cry	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0025429	HP:0025429	Abnormal cry	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0025429	HP:0025429	Abnormal cry	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0025429	HP:0025429	Abnormal cry	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0025429	HP:0025429	Abnormal cry	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0025429	HP:0025429	Abnormal cry	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025429	HP:0025429	Abnormal cry	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0025429	HP:0025429	Abnormal cry	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0025429	HP:0025429	Abnormal cry	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0025429	HP:0025429	Abnormal cry	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0025429	HP:0025429	Abnormal cry	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0025429	HP:0025429	Abnormal cry	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0025429	HP:0025429	Abnormal cry	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0025429	HP:0025429	Abnormal cry	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025429	HP:0025429	Abnormal cry	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0025429	HP:0025429	Abnormal cry	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0025429	HP:0025429	Abnormal cry	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0025429	HP:0025429	Abnormal cry	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0025429	HP:0025429	Abnormal cry	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0025429	HP:0025429	Abnormal cry	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025429	HP:0025429	Abnormal cry	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0025429	HP:0025429	Abnormal cry	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0025429	HP:0025429	Abnormal cry	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0025429	HP:0025429	Abnormal cry	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures		92
HP:0025429	HP:0025429	Abnormal cry	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0025429	HP:0025429	Abnormal cry	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0025429	HP:0025429	Abnormal cry	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0025429	HP:0025429	Abnormal cry	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0025429	HP:0025429	Abnormal cry	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0025429	HP:0025429	Abnormal cry	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0025429	HP:0025429	Abnormal cry	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0025429	HP:0025429	Abnormal cry	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0025429	HP:0025429	Abnormal cry	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0025429	HP:0025429	Abnormal cry	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0025429	HP:0025429	Abnormal cry	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0025429	HP:0025429	Abnormal cry	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0025429	HP:0025429	Abnormal cry	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0025429	HP:0025429	Abnormal cry	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0025429	HP:0025429	Abnormal cry	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0025429	HP:0025429	Abnormal cry	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0025429	HP:0025429	Abnormal cry	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0025429	HP:0025429	Abnormal cry	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0025429	HP:0025429	Abnormal cry	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0025429	HP:0025429	Abnormal cry	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0025429	HP:0025429	Abnormal cry	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0025429	HP:0025429	Abnormal cry	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0025429	HP:0025429	Abnormal cry	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0025429	HP:0025429	Abnormal cry	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0025429	HP:0025429	Abnormal cry	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0025429	HP:0025430	High-pitched cry	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0025429	HP:0001612	Weak cry	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0025429	HP:0001612	Weak cry	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0025429	HP:0001612	Weak cry	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0025429	HP:0001612	Weak cry	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0025429	HP:0025430	High-pitched cry	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0025429	HP:0025430	High-pitched cry	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0025429	HP:0001612	Weak cry	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0025429	HP:0001612	Weak cry	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0025429	HP:0001612	Weak cry	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0025429	HP:0001612	Weak cry	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0025429	HP:0001612	Weak cry	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0025429	HP:0001612	Weak cry	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0025429	HP:0001612	Weak cry	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0025429	HP:0001612	Weak cry	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0025429	HP:0001612	Weak cry	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0025429	HP:0001612	Weak cry	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0025429	HP:0001612	Weak cry	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0025429	HP:0200046	Cat cry	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0025429	HP:0001612	Weak cry	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0025429	HP:0025430	High-pitched cry	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0025429	HP:0001612	Weak cry	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0025429	HP:0001612	Weak cry	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0025429	HP:0001612	Weak cry	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0025429	HP:0001612	Weak cry	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0025429	HP:0001612	Weak cry	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0025429	HP:0001612	Weak cry	1	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0025429	HP:0001612	Weak cry	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0025429	HP:0001612	Weak cry	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0025429	HP:0001612	Weak cry	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0025429	HP:0001612	Weak cry	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0025429	HP:0001612	Weak cry	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0025429	HP:0001612	Weak cry	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0025429	HP:0001612	Weak cry	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0025429	HP:0001612	Weak cry	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0025429	HP:0001612	Weak cry	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0025429	HP:0025430	High-pitched cry	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0025429	HP:0001612	Weak cry	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0025429	HP:0001612	Weak cry	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0025429	HP:0001612	Weak cry	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0025429	HP:0001612	Weak cry	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0025429	HP:0001612	Weak cry	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0025429	HP:0001612	Weak cry	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0025429	HP:0025430	High-pitched cry	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0025429	HP:0001612	Weak cry	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0025429	HP:0001612	Weak cry	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0025429	HP:0001612	Weak cry	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0025429	HP:0001612	Weak cry	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040282 - Frequent	1200
HP:0025429	HP:0001612	Weak cry	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0025429	HP:0001612	Weak cry	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0025429	HP:0200046	Cat cry	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0025429	HP:0001612	Weak cry	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0025429	HP:0001612	Weak cry	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0025429	HP:0001612	Weak cry	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0025429	HP:0001612	Weak cry	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0025429	HP:0001612	Weak cry	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0025429	HP:0001612	Weak cry	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent	37
HP:0025429	HP:0001612	Weak cry	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0025429	HP:0001612	Weak cry	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0025429	HP:0001612	Weak cry	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0025429	HP:0001612	Weak cry	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0025429	HP:0001612	Weak cry	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0025429	HP:0025431	Staccato cry	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0025429	HP:0001612	Weak cry	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0025429	HP:0001612	Weak cry	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0025429	HP:0001612	Weak cry	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0025429	HP:0001612	Weak cry	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0025429	HP:0200046	Cat cry	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546