Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal muscle tone (HP:0003808)

Parent Node:
Hypotonia (HP:0001252)

..Starting node
..Axial hypotonia (HP:0008936)

Term ID:

8936

Name:

Axial hypotonia

Synonym:

Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia

Definition:

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

Comments:

Reference:

HP:0008936

Genes and Diseases:

Child Nodes:

........

Infantile axial hypotonia (HP:0009062)

Sister Nodes:

Appendicular hypotonia (HP:0012389)

Facial hypotonia (HP:0000297)

Frog-leg posture (HP:0031139)

Generalized hypotonia (HP:0001290)

Infantile muscular hypotonia (HP:0008947)

Neonatal hypotonia (HP:0001319)

Oral motor hypotonia (HP:0030190)

Severe muscular hypotonia (HP:0006829)

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:0008936	HP:0008936	Axial hypotonia	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0008936	HP:0008936	Axial hypotonia	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent	245
HP:0008936	HP:0008936	Axial hypotonia	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0008936	HP:0008936	Axial hypotonia	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0008936	HP:0008936	Axial hypotonia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0008936	HP:0008936	Axial hypotonia	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0008936	HP:0008936	Axial hypotonia	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0008936	HP:0008936	Axial hypotonia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional	25
HP:0008936	HP:0008936	Axial hypotonia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent	25
HP:0008936	HP:0008936	Axial hypotonia	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0008936	HP:0008936	Axial hypotonia	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0008936	HP:0008936	Axial hypotonia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0008936	HP:0008936	Axial hypotonia	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0008936	HP:0008936	Axial hypotonia	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0008936	HP:0008936	Axial hypotonia	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0008936	HP:0008936	Axial hypotonia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0008936	HP:0008936	Axial hypotonia	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0008936	HP:0008936	Axial hypotonia	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0008936	HP:0008936	Axial hypotonia	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0008936	HP:0008936	Axial hypotonia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.	166
HP:0008936	HP:0008936	Axial hypotonia	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0008936	HP:0008936	Axial hypotonia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0008936	HP:0008936	Axial hypotonia	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0008936	HP:0008936	Axial hypotonia	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0008936	HP:0008936	Axial hypotonia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040281 - Very frequent	5
HP:0008936	HP:0008936	Axial hypotonia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0008936	HP:0008936	Axial hypotonia	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0008936	HP:0008936	Axial hypotonia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0008936	HP:0008936	Axial hypotonia	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0008936	HP:0008936	Axial hypotonia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0008936	HP:0008936	Axial hypotonia	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0008936	HP:0008936	Axial hypotonia	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0008936	HP:0008936	Axial hypotonia	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0008936	HP:0008936	Axial hypotonia	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0008936	HP:0008936	Axial hypotonia	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0008936	HP:0008936	Axial hypotonia	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0008936	HP:0008936	Axial hypotonia	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0008936	HP:0008936	Axial hypotonia	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0008936	HP:0008936	Axial hypotonia	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0008936	HP:0008936	Axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0008936	HP:0008936	Axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0008936	HP:0008936	Axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0008936	HP:0008936	Axial hypotonia	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0008936	HP:0008936	Axial hypotonia	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0008936	HP:0008936	Axial hypotonia	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0008936	HP:0008936	Axial hypotonia	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0008936	HP:0008936	Axial hypotonia	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0008936	HP:0008936	Axial hypotonia	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0008936	HP:0008936	Axial hypotonia	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0008936	HP:0008936	Axial hypotonia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0008936	HP:0008936	Axial hypotonia	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0008936	HP:0008936	Axial hypotonia	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent	88
HP:0008936	HP:0008936	Axial hypotonia	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008936	HP:0008936	Axial hypotonia	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0008936	HP:0008936	Axial hypotonia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0008936	HP:0008936	Axial hypotonia	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0008936	HP:0008936	Axial hypotonia	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0008936	HP:0008936	Axial hypotonia	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0008936	HP:0008936	Axial hypotonia	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0008936	HP:0008936	Axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0008936	HP:0008936	Axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0008936	HP:0008936	Axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0008936	HP:0008936	Axial hypotonia	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0008936	HP:0008936	Axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0008936	HP:0008936	Axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0008936	HP:0008936	Axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0008936	HP:0008936	Axial hypotonia	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0008936	HP:0008936	Axial hypotonia	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0008936	HP:0008936	Axial hypotonia	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0008936	HP:0008936	Axial hypotonia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0008936	HP:0008936	Axial hypotonia	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0008936	HP:0008936	Axial hypotonia	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0008936	HP:0008936	Axial hypotonia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0008936	HP:0008936	Axial hypotonia	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0008936	HP:0008936	Axial hypotonia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0008936	HP:0008936	Axial hypotonia	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0008936	HP:0008936	Axial hypotonia	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0008936	HP:0008936	Axial hypotonia	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0008936	HP:0008936	Axial hypotonia	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0008936	HP:0008936	Axial hypotonia	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0008936	HP:0008936	Axial hypotonia	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0008936	HP:0008936	Axial hypotonia	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0008936	HP:0008936	Axial hypotonia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0008936	HP:0008936	Axial hypotonia	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0008936	HP:0008936	Axial hypotonia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0008936	HP:0008936	Axial hypotonia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0008936	HP:0008936	Axial hypotonia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0008936	HP:0008936	Axial hypotonia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0008936	HP:0008936	Axial hypotonia	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0008936	HP:0008936	Axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0008936	HP:0008936	Axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0008936	HP:0008936	Axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0008936	HP:0008936	Axial hypotonia	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0008936	HP:0008936	Axial hypotonia	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0008936	HP:0008936	Axial hypotonia	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0008936	HP:0008936	Axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0008936	HP:0008936	Axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0008936	HP:0008936	Axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0008936	HP:0008936	Axial hypotonia	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0008936	HP:0008936	Axial hypotonia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0008936	HP:0008936	Axial hypotonia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0008936	HP:0008936	Axial hypotonia	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0008936	HP:0008936	Axial hypotonia	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0008936	HP:0008936	Axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0008936	HP:0008936	Axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0008936	HP:0008936	Axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0008936	HP:0008936	Axial hypotonia	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0008936	HP:0008936	Axial hypotonia	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0008936	HP:0008936	Axial hypotonia	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		14
HP:0008936	HP:0008936	Axial hypotonia	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0008936	HP:0008936	Axial hypotonia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0008936	HP:0008936	Axial hypotonia	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0008936	HP:0008936	Axial hypotonia	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0008936	HP:0008936	Axial hypotonia	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0008936	HP:0008936	Axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0008936	HP:0008936	Axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0008936	HP:0008936	Axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0008936	HP:0008936	Axial hypotonia	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0008936	HP:0008936	Axial hypotonia	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0008936	HP:0008936	Axial hypotonia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0008936	HP:0008936	Axial hypotonia	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0008936	HP:0008936	Axial hypotonia	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0008936	HP:0008936	Axial hypotonia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0008936	HP:0008936	Axial hypotonia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0008936	HP:0008936	Axial hypotonia	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0008936	HP:0008936	Axial hypotonia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0008936	HP:0008936	Axial hypotonia	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0008936	HP:0008936	Axial hypotonia	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0008936	HP:0008936	Axial hypotonia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent	108
HP:0008936	HP:0008936	Axial hypotonia	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0008936	HP:0008936	Axial hypotonia	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation		434
HP:0008936	HP:0008936	Axial hypotonia	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0008936	HP:0008936	Axial hypotonia	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0008936	HP:0008936	Axial hypotonia	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0008936	HP:0008936	Axial hypotonia	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0008936	HP:0008936	Axial hypotonia	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0008936	HP:0008936	Axial hypotonia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0008936	HP:0008936	Axial hypotonia	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0008936	HP:0008936	Axial hypotonia	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0008936	HP:0008936	Axial hypotonia	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0008936	HP:0008936	Axial hypotonia	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0008936	HP:0008936	Axial hypotonia	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0008936	HP:0008936	Axial hypotonia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0008936	HP:0008936	Axial hypotonia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0008936	HP:0008936	Axial hypotonia	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0008936	HP:0008936	Axial hypotonia	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0008936	HP:0008936	Axial hypotonia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0008936	HP:0008936	Axial hypotonia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent	127
HP:0008936	HP:0008936	Axial hypotonia	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0008936	HP:0008936	Axial hypotonia	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	528
HP:0008936	HP:0008936	Axial hypotonia	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	302
HP:0008936	HP:0008936	Axial hypotonia	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0008936	HP:0008936	Axial hypotonia	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9		276
HP:0008936	HP:0008936	Axial hypotonia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0008936	HP:0008936	Axial hypotonia	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0008936	HP:0008936	Axial hypotonia	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0008936	HP:0008936	Axial hypotonia	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0008936	HP:0008936	Axial hypotonia	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0008936	HP:0008936	Axial hypotonia	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008936	HP:0008936	Axial hypotonia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0008936	HP:0008936	Axial hypotonia	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0008936	HP:0008936	Axial hypotonia	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0008936	HP:0008936	Axial hypotonia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0008936	HP:0008936	Axial hypotonia	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.	5
HP:0008936	HP:0008936	Axial hypotonia	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0008936	HP:0008936	Axial hypotonia	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0008936	HP:0008936	Axial hypotonia	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0008936	HP:0008936	Axial hypotonia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0008936	HP:0008936	Axial hypotonia	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0008936	HP:0008936	Axial hypotonia	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0008936	HP:0008936	Axial hypotonia	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0008936	HP:0008936	Axial hypotonia	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0008936	HP:0008936	Axial hypotonia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0008936	HP:0008936	Axial hypotonia	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0008936	HP:0008936	Axial hypotonia	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0008936	HP:0008936	Axial hypotonia	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0008936	HP:0008936	Axial hypotonia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0008936	HP:0008936	Axial hypotonia	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0008936	HP:0008936	Axial hypotonia	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent	34
HP:0008936	HP:0008936	Axial hypotonia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0008936	HP:0008936	Axial hypotonia	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0008936	HP:0008936	Axial hypotonia	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0008936	HP:0008936	Axial hypotonia	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0008936	HP:0008936	Axial hypotonia	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0008936	HP:0008936	Axial hypotonia	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0008936	HP:0008936	Axial hypotonia	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.	1
HP:0008936	HP:0008936	Axial hypotonia	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0008936	HP:0008936	Axial hypotonia	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0008936	HP:0008936	Axial hypotonia	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0008936	HP:0008936	Axial hypotonia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0008936	HP:0008936	Axial hypotonia	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0008936	HP:0008936	Axial hypotonia	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0008936	HP:0008936	Axial hypotonia	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0008936	HP:0008936	Axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0008936	HP:0008936	Axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0008936	HP:0008936	Axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0008936	HP:0008936	Axial hypotonia	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0008936	HP:0008936	Axial hypotonia	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0008936	HP:0008936	Axial hypotonia	0	NRROS CL E G H	375387	24613	OMIM:618875	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC		1
HP:0008936	HP:0008936	Axial hypotonia	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0008936	HP:0008936	Axial hypotonia	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0008936	HP:0008936	Axial hypotonia	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0008936	HP:0008936	Axial hypotonia	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0008936	HP:0008936	Axial hypotonia	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0008936	HP:0008936	Axial hypotonia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0008936	HP:0008936	Axial hypotonia	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0008936	HP:0008936	Axial hypotonia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0008936	HP:0008936	Axial hypotonia	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0008936	HP:0008936	Axial hypotonia	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0008936	HP:0008936	Axial hypotonia	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0008936	HP:0008936	Axial hypotonia	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040283 - Occasional	24
HP:0008936	HP:0008936	Axial hypotonia	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0008936	HP:0008936	Axial hypotonia	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0008936	HP:0008936	Axial hypotonia	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0008936	HP:0008936	Axial hypotonia	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0008936	HP:0008936	Axial hypotonia	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0008936	HP:0008936	Axial hypotonia	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0008936	HP:0008936	Axial hypotonia	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0008936	HP:0008936	Axial hypotonia	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0008936	HP:0008936	Axial hypotonia	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0008936	HP:0008936	Axial hypotonia	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0008936	HP:0008936	Axial hypotonia	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0008936	HP:0008936	Axial hypotonia	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0008936	HP:0008936	Axial hypotonia	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0008936	HP:0008936	Axial hypotonia	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0008936	HP:0008936	Axial hypotonia	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0008936	HP:0008936	Axial hypotonia	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0008936	HP:0008936	Axial hypotonia	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0008936	HP:0008936	Axial hypotonia	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0008936	HP:0008936	Axial hypotonia	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.	119
HP:0008936	HP:0008936	Axial hypotonia	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0008936	HP:0008936	Axial hypotonia	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0008936	HP:0008936	Axial hypotonia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0008936	HP:0008936	Axial hypotonia	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0008936	HP:0008936	Axial hypotonia	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0008936	HP:0008936	Axial hypotonia	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent	60
HP:0008936	HP:0008936	Axial hypotonia	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0008936	HP:0008936	Axial hypotonia	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0008936	HP:0008936	Axial hypotonia	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0008936	HP:0008936	Axial hypotonia	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0008936	HP:0008936	Axial hypotonia	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0008936	HP:0008936	Axial hypotonia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008936	HP:0008936	Axial hypotonia	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0008936	HP:0008936	Axial hypotonia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0008936	HP:0008936	Axial hypotonia	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0008936	HP:0008936	Axial hypotonia	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0008936	HP:0008936	Axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0008936	HP:0008936	Axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0008936	HP:0008936	Axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0008936	HP:0008936	Axial hypotonia	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0008936	HP:0008936	Axial hypotonia	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0008936	HP:0008936	Axial hypotonia	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0008936	HP:0008936	Axial hypotonia	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0008936	HP:0008936	Axial hypotonia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0008936	HP:0008936	Axial hypotonia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0008936	HP:0008936	Axial hypotonia	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0008936	HP:0008936	Axial hypotonia	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008936	HP:0008936	Axial hypotonia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0008936	HP:0008936	Axial hypotonia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0008936	HP:0008936	Axial hypotonia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0008936	HP:0008936	Axial hypotonia	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0008936	HP:0008936	Axial hypotonia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0008936	HP:0008936	Axial hypotonia	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0008936	HP:0008936	Axial hypotonia	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0008936	HP:0008936	Axial hypotonia	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0008936	HP:0008936	Axial hypotonia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008936	HP:0008936	Axial hypotonia	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0008936	HP:0008936	Axial hypotonia	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0008936	HP:0008936	Axial hypotonia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0008936	HP:0008936	Axial hypotonia	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0008936	HP:0008936	Axial hypotonia	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0008936	HP:0008936	Axial hypotonia	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0008936	HP:0008936	Axial hypotonia	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0008936	HP:0008936	Axial hypotonia	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0008936	HP:0008936	Axial hypotonia	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0008936	HP:0008936	Axial hypotonia	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0008936	HP:0008936	Axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0008936	HP:0008936	Axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0008936	HP:0008936	Axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0008936	HP:0008936	Axial hypotonia	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0008936	HP:0008936	Axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:0008936	HP:0008936	Axial hypotonia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040281 - Very frequent	57
HP:0008936	HP:0008936	Axial hypotonia	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0008936	HP:0008936	Axial hypotonia	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0008936	HP:0008936	Axial hypotonia	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.	110
HP:0008936	HP:0008936	Axial hypotonia	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0008936	HP:0008936	Axial hypotonia	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0008936	HP:0008936	Axial hypotonia	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0008936	HP:0008936	Axial hypotonia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0008936	HP:0008936	Axial hypotonia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27
HP:0008936	HP:0008936	Axial hypotonia	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0008936	HP:0008936	Axial hypotonia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0008936	HP:0008936	Axial hypotonia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0008936	HP:0008936	Axial hypotonia	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0008936	HP:0008936	Axial hypotonia	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0008936	HP:0008936	Axial hypotonia	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0008936	HP:0008936	Axial hypotonia	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0008936	HP:0008936	Axial hypotonia	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0008936	HP:0008936	Axial hypotonia	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0008936	HP:0008936	Axial hypotonia	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0008936	HP:0008936	Axial hypotonia	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0008936	HP:0008936	Axial hypotonia	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0008936	HP:0008936	Axial hypotonia	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.	19
HP:0008936	HP:0008936	Axial hypotonia	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0008936	HP:0008936	Axial hypotonia	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0008936	HP:0008936	Axial hypotonia	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0008936	HP:0008936	Axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0008936	HP:0008936	Axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0008936	HP:0008936	Axial hypotonia	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0008936	HP:0008936	Axial hypotonia	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0008936	HP:0008936	Axial hypotonia	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008936	HP:0008936	Axial hypotonia	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0008936	HP:0008936	Axial hypotonia	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0008936	HP:0008936	Axial hypotonia	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0008936	HP:0008936	Axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0008936	HP:0008936	Axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0008936	HP:0008936	Axial hypotonia	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0008936	HP:0008936	Axial hypotonia	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0008936	HP:0008936	Axial hypotonia	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0008936	HP:0008936	Axial hypotonia	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0008936	HP:0008936	Axial hypotonia	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0008936	HP:0008936	Axial hypotonia	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0008936	HP:0008936	Axial hypotonia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0008936	HP:0008936	Axial hypotonia	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0008936	HP:0008936	Axial hypotonia	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0008936	HP:0008936	Axial hypotonia	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0008936	HP:0008936	Axial hypotonia	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0008936	HP:0008936	Axial hypotonia	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0008936	HP:0008936	Axial hypotonia	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0008936	HP:0008936	Axial hypotonia	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0008936	HP:0008936	Axial hypotonia	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0008936	HP:0008936	Axial hypotonia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0008936	HP:0008936	Axial hypotonia	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0008936	HP:0008936	Axial hypotonia	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0008936	HP:0008936	Axial hypotonia	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0008936	HP:0008936	Axial hypotonia	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0008936	HP:0008936	Axial hypotonia	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0008936	HP:0008936	Axial hypotonia	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0008936	HP:0008936	Axial hypotonia	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008936	HP:0008936	Axial hypotonia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0008936	HP:0008936	Axial hypotonia	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0008936	HP:0008936	Axial hypotonia	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0008936	HP:0008936	Axial hypotonia	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0008936	HP:0008936	Axial hypotonia	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0008936	HP:0008936	Axial hypotonia	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0008936	HP:0008936	Axial hypotonia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0008936	HP:0008936	Axial hypotonia	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0008936	HP:0008936	Axial hypotonia	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0008936	HP:0008936	Axial hypotonia	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0008936	HP:0008936	Axial hypotonia	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0008936	HP:0008936	Axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0008936	HP:0008936	Axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0008936	HP:0008936	Axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0008936	HP:0008936	Axial hypotonia	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0008936	HP:0008936	Axial hypotonia	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0008936	HP:0009062	Infantile axial hypotonia	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0008936	HP:0009062	Infantile axial hypotonia	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0008936	HP:0009062	Infantile axial hypotonia	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0008936	HP:0009062	Infantile axial hypotonia	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0008936	HP:0009062	Infantile axial hypotonia	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0008936	HP:0009062	Infantile axial hypotonia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0008936	HP:0009062	Infantile axial hypotonia	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0008936	HP:0009062	Infantile axial hypotonia	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0008936	HP:0009062	Infantile axial hypotonia	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0008936	HP:0009062	Infantile axial hypotonia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0008936	HP:0009062	Infantile axial hypotonia	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0008936	HP:0009062	Infantile axial hypotonia	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0008936	HP:0009062	Infantile axial hypotonia	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0008936	HP:0009062	Infantile axial hypotonia	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0008936	HP:0009062	Infantile axial hypotonia	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0008936	HP:0009062	Infantile axial hypotonia	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0008936	HP:0009062	Infantile axial hypotonia	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0008936	HP:0009062	Infantile axial hypotonia	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0008936	HP:0009062	Infantile axial hypotonia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0008936	HP:0009062	Infantile axial hypotonia	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0008936	HP:0009062	Infantile axial hypotonia	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0008936	HP:0009062	Infantile axial hypotonia	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0008936	HP:0009062	Infantile axial hypotonia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0008936	HP:0009062	Infantile axial hypotonia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0008936	HP:0009062	Infantile axial hypotonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0008936	HP:0009062	Infantile axial hypotonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0008936	HP:0009062	Infantile axial hypotonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0008936	HP:0009062	Infantile axial hypotonia	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34

Genes (285) :AARS1 ABCC8 ACSF3 ACTL6B ADAR ADARB1 ADCY5 AIMP1 ALG11 ALG3 ALG6 AMPD2 AP3B2 AP3D1 AP4S1 ARFGEF1 ARX ASH1L ASNS ASXL1 ATAD3A ATG7 B4GALT1 BCS1L BRAT1 CACNA1C CACNA1E CACNA1G CACNA2D2 CAMK2A CAMK2B CAMTA1 CASK CDH2 CDON CEP85L CERT1 CHMP1A CHP1 CLCN6 CLDN11 COG4 CTNNB1 DARS1 DCX DDC DDX6 DENND5A DHDDS DHPS DISP1 DLL1 DNAJC12 DNM1L DPAGT1 EBF3 EIF2AK2 EIF2S3 ELP2 EMC1 ERCC1 ERCC6 ERCC8 EXOSC3 EXOSC9 EXTL3 FAR1 FARS2 FARSB FBXO28 FDXR FGF12 FGF8 FGFR1 FOXH1 GAD1 GALC GAS1 GDI1 GFER GFM1 GFM2 GJA5 GJA8 GJC2 GLI2 GLS GLYCTK GM2A GNB1 GNPTAB GPHN GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GUF1 H4C5 HACE1 HEXB HK1 HTT HYCC1 IER3IP1 IFIH1 INSR KAT6A KCNJ11 KCNMA1 KCNQ2 KCNQ3 KIDINS220 KIF1A LGI3 LIPT1 LIPT2 LMNB1 LMX1B LRRC32 LSM11 LYRM7 MACF1 MAN2B1 MBOAT7 MDH1 MECP2 MED23 MFF MICOS13 MINPP1 MKS1 MRPL12 MRPS22 NALCN NAPB NARS2 NAXD NDUFA1 NDUFA6 NDUFB11 NDUFC2 NDUFS2 NECAP1 NEDD4L NEUROD2 NEXMIF NFIX NFU1 NHLRC2 NMNAT1 NODAL NONO NRROS NSMCE3 NSRP1 NSUN2 OCLN OPA1 OSTM1 PAFAH1B1 PAM16 PARS2 PAX7 PCBD1 PCCA PCCB PCDH12 PCGF2 PCLO PDE10A PDE2A PDHX PDP1 PEX3 PGAP1 PIGA PIGP PIGY PIK3R2 PLA2G6 PLCB1 PLCH1 PLP1 PMM2 PNPO PNPT1 PPP1R15B PRDM13 PRPS1 PRR12 PRUNE1 PSAP PSAT1 PSMC1 PTCH1 PTPN23 PTS PYCR2 RAB18 RAB3GAP2 RARS1 RARS2 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 ROBO3 RRM2B RTTN RUSC2 RYR1 SAMHD1 SATB1 SCN1A SCO1 SDHB SEPSECS SET SHH SIX3 SLC13A5 SLC16A2 SLC18A2 SLC19A3 SLC1A2 SLC25A12 SLC25A19 SLC30A9 SLC35A2 SLC38A3 SLC39A14 SLC6A3 SLC6A8 SLC6A9 SMC1A SMG9 SOD1 SOX10 SPATA5 SPR STAG2 STIL STXBP1 SUCLG1 SUOX TARS2 TBC1D2B TDGF1 TGIF1 TH TIAM1 TMTC3 TNR TRAPPC12 TREX1 TRMT10A TRNT1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB3 TUBB4A TUBGCP2 UBE3B UFC1 UGDH UGP2 UNC80 VAMP2 VPS11 VPS13D VPS41 WARS2 WDR45B WDR73 WWOX YIF1B ZIC2 ZNF526

Diseases (281) :OMIM:616339 ORPHA:79134 ORPHA:289504 OMIM:618468 ORPHA:51 OMIM:618862 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 OMIM:260600 ORPHA:280071 OMIM:601110 OMIM:603147 OMIM:615809 OMIM:617276 OMIM:617050 OMIM:614067 OMIM:619964 OMIM:308350 OMIM:617796 OMIM:615574 ORPHA:97297 OMIM:617183 ORPHA:496790 OMIM:619422 ORPHA:79332 OMIM:124000 OMIM:618056 OMIM:614498 OMIM:620029 OMIM:618285 OMIM:618087 OMIM:618501 OMIM:617798 OMIM:617799 OMIM:614756 OMIM:300749 OMIM:618929 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:572013 OMIM:616351 OMIM:614961 OMIM:618438 OMIM:619173 OMIM:619328 ORPHA:263501 OMIM:613489 ORPHA:404473 OMIM:615281 OMIM:300067 OMIM:608643 OMIM:618653 OMIM:617281 OMIM:613861 OMIM:618480 OMIM:617384 OMIM:614388 ORPHA:86309 OMIM:617330 OMIM:619687 OMIM:300148 OMIM:617270 OMIM:616875 ORPHA:90322 OMIM:214150 OMIM:614678 OMIM:618065 OMIM:617425 ORPHA:508533 OMIM:619338 ORPHA:466722 OMIM:613658 OMIM:619777 ORPHA:543470 OMIM:617166 OMIM:619124 ORPHA:206436 OMIM:245200 ORPHA:206443 OMIM:300849 ORPHA:330054 OMIM:609060 ORPHA:565624 OMIM:612474 OMIM:608804 OMIM:618339 OMIM:220120 ORPHA:309246 OMIM:272750 OMIM:616973 OMIM:252500 ORPHA:576 OMIM:615501 ORPHA:364028 OMIM:619580 ORPHA:208447 OMIM:619814 ORPHA:289266 OMIM:616139 OMIM:617162 OMIM:614831 OMIM:618922 OMIM:617065 OMIM:619950 ORPHA:464282 ORPHA:309155 OMIM:618547 OMIM:617435 OMIM:610532 OMIM:614231 OMIM:615846 ORPHA:508 OMIM:616268 OMIM:618729 ORPHA:1949 OMIM:617296 OMIM:614255 OMIM:620007 OMIM:616299 OMIM:617668 OMIM:619179 ORPHA:495818 OMIM:619074 OMIM:615838 ORPHA:309282 OMIM:617188 OMIM:618959 OMIM:300673 OMIM:300260 OMIM:300055 OMIM:614249 ORPHA:485421 OMIM:618329 OMIM:619527 OMIM:249000 OMIM:618951 OMIM:611719 OMIM:615419 ORPHA:371364 OMIM:620033 OMIM:618321 OMIM:301020 OMIM:618253 OMIM:300952 OMIM:619170 OMIM:618228 OMIM:615833 OMIM:617201 OMIM:618374 OMIM:300912 OMIM:602535 OMIM:605711 OMIM:618278 OMIM:619260 OMIM:300967 OMIM:618875 OMIM:617241 OMIM:620001 OMIM:611091 OMIM:251290 OMIM:616896 OMIM:259720 OMIM:607432 ORPHA:95232 OMIM:613320 OMIM:618437 OMIM:618578 ORPHA:1578 OMIM:606054 OMIM:251280 OMIM:618371 OMIM:608027 OMIM:616921 ORPHA:494526 OMIM:619150 ORPHA:255182 ORPHA:79246 OMIM:617370 OMIM:615802 OMIM:300868 OMIM:301072 OMIM:617599 OMIM:616809 OMIM:603387 ORPHA:35069 OMIM:613722 ORPHA:280219 ORPHA:79318 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 ORPHA:391408 OMIM:619909 ORPHA:1187 ORPHA:423479 OMIM:619539 ORPHA:544469 ORPHA:284417 OMIM:620071 OMIM:618890 OMIM:261640 OMIM:616420 OMIM:614222 OMIM:614225 ORPHA:438114 OMIM:611523 ORPHA:512260 OMIM:619487 OMIM:607313 OMIM:612075 ORPHA:468631 OMIM:617773 ORPHA:424107 OMIM:612952 OMIM:619229 OMIM:619317 OMIM:619048 OMIM:619224 ORPHA:2524 OMIM:618106 OMIM:615905 ORPHA:59 ORPHA:352649 OMIM:618049 OMIM:607483 OMIM:617105 OMIM:612949 OMIM:607196 OMIM:617595 ORPHA:356961 OMIM:619881 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 OMIM:300352 OMIM:617301 OMIM:301044 OMIM:616920 OMIM:618598 OMIM:611584 OMIM:616577 ORPHA:70594 OMIM:612716 OMIM:245400 OMIM:272300 OMIM:615918 OMIM:619323 OMIM:605407 OMIM:619908 OMIM:617255 OMIM:619653 ORPHA:500144 OMIM:617669 OMIM:225750 OMIM:616084 OMIM:612389 ORPHA:300570 OMIM:614039 OMIM:612438 OMIM:618737 OMIM:244450 OMIM:618076 OMIM:618792 OMIM:618744 OMIM:618760 OMIM:616683 OMIM:607317 OMIM:619389 OMIM:617710 ORPHA:572798 OMIM:617977 OMIM:251300 OMIM:616211 OMIM:619125 OMIM:619877

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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