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 central motor function (HP:0011442)

Grandparent Node:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Abnormality of eye movement (HP:0000496)

Parent Node:
Apraxia (HP:0002186)

..Starting node
..Oculomotor apraxia (HP:0000657)

Term ID:

657

Name:

Oculomotor apraxia

Synonym:

Defective or absent horizontal voluntary eye movements; Ocular motor apraxia

Definition:

Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.

Comments:

Reference:

HP:0000657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eyelid apraxia (HP:0000658)

Gait apraxia (HP:0010521)

Limb apraxia (HP:0030217)

Oromotor apraxia (HP:0007301)

Speech apraxia (HP:0011098)

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:0000657	HP:0000657	Oculomotor apraxia	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0000657	HP:0000657	Oculomotor apraxia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0000657	HP:0000657	Oculomotor apraxia	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0000657	HP:0000657	Oculomotor apraxia	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0000657	HP:0000657	Oculomotor apraxia	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0000657	HP:0000657	Oculomotor apraxia	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0000657	HP:0000657	Oculomotor apraxia	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0000657	HP:0000657	Oculomotor apraxia	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	74
HP:0000657	HP:0000657	Oculomotor apraxia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0000657	HP:0000657	Oculomotor apraxia	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0000657	HP:0000657	Oculomotor apraxia	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0000657	HP:0000657	Oculomotor apraxia	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0000657	HP:0000657	Oculomotor apraxia	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000657	HP:0000657	Oculomotor apraxia	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0000657	HP:0000657	Oculomotor apraxia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0000657	HP:0000657	Oculomotor apraxia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0000657	HP:0000657	Oculomotor apraxia	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0000657	HP:0000657	Oculomotor apraxia	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.	28
HP:0000657	HP:0000657	Oculomotor apraxia	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0000657	HP:0000657	Oculomotor apraxia	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000657	HP:0000657	Oculomotor apraxia	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000657	HP:0000657	Oculomotor apraxia	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000657	HP:0000657	Oculomotor apraxia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0000657	HP:0000657	Oculomotor apraxia	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000657	HP:0000657	Oculomotor apraxia	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0000657	HP:0000657	Oculomotor apraxia	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0000657	HP:0000657	Oculomotor apraxia	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0000657	HP:0000657	Oculomotor apraxia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	HP:0040282 - Frequent	90
HP:0000657	HP:0000657	Oculomotor apraxia	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0000657	HP:0000657	Oculomotor apraxia	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0000657	HP:0000657	Oculomotor apraxia	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000657	HP:0000657	Oculomotor apraxia	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0000657	HP:0000657	Oculomotor apraxia	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0000657	HP:0000657	Oculomotor apraxia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0000657	HP:0000657	Oculomotor apraxia	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0000657	HP:0000657	Oculomotor apraxia	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0000657	HP:0000657	Oculomotor apraxia	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0000657	HP:0000657	Oculomotor apraxia	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000657	HP:0000657	Oculomotor apraxia	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0000657	HP:0000657	Oculomotor apraxia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0000657	HP:0000657	Oculomotor apraxia	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0000657	HP:0000657	Oculomotor apraxia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000657	HP:0000657	Oculomotor apraxia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0000657	HP:0000657	Oculomotor apraxia	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000657	HP:0000657	Oculomotor apraxia	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0000657	HP:0000657	Oculomotor apraxia	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0000657	HP:0000657	Oculomotor apraxia	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0000657	HP:0000657	Oculomotor apraxia	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0000657	HP:0000657	Oculomotor apraxia	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0000657	HP:0000657	Oculomotor apraxia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0000657	HP:0000657	Oculomotor apraxia	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0000657	HP:0000657	Oculomotor apraxia	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent	177
HP:0000657	HP:0000657	Oculomotor apraxia	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000657	HP:0000657	Oculomotor apraxia	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000657	HP:0000657	Oculomotor apraxia	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000657	HP:0000657	Oculomotor apraxia	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0000657	HP:0000657	Oculomotor apraxia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0000657	HP:0000657	Oculomotor apraxia	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0000657	HP:0000657	Oculomotor apraxia	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0000657	HP:0000657	Oculomotor apraxia	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0000657	HP:0000657	Oculomotor apraxia	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000657	HP:0000657	Oculomotor apraxia	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare	140
HP:0000657	HP:0000657	Oculomotor apraxia	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	HP:0040284 - Very rare	1
HP:0000657	HP:0000657	Oculomotor apraxia	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0000657	HP:0000657	Oculomotor apraxia	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0000657	HP:0000657	Oculomotor apraxia	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0000657	HP:0000657	Oculomotor apraxia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0000657	HP:0000657	Oculomotor apraxia	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0000657	HP:0000657	Oculomotor apraxia	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000657	HP:0000657	Oculomotor apraxia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0000657	HP:0000657	Oculomotor apraxia	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0000657	HP:0000657	Oculomotor apraxia	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0000657	HP:0000657	Oculomotor apraxia	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0000657	HP:0000657	Oculomotor apraxia	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0000657	HP:0000657	Oculomotor apraxia	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000657	HP:0000657	Oculomotor apraxia	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.	4
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0000657	HP:0000657	Oculomotor apraxia	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	11
HP:0000657	HP:0000657	Oculomotor apraxia	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent	7
HP:0000657	HP:0000657	Oculomotor apraxia	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0000657	HP:0000657	Oculomotor apraxia	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent	244
HP:0000657	HP:0000657	Oculomotor apraxia	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0000657	HP:0000657	Oculomotor apraxia	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	241
HP:0000657	HP:0000657	Oculomotor apraxia	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	59
HP:0000657	HP:0000657	Oculomotor apraxia	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0000657	HP:0000657	Oculomotor apraxia	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0000657	HP:0000657	Oculomotor apraxia	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0000657	HP:0000657	Oculomotor apraxia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0000657	HP:0000657	Oculomotor apraxia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	167
HP:0000657	HP:0000657	Oculomotor apraxia	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	162
HP:0000657	HP:0000657	Oculomotor apraxia	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0000657	HP:0000657	Oculomotor apraxia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0000657	HP:0000657	Oculomotor apraxia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0000657	HP:0000657	Oculomotor apraxia	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	3
HP:0000657	HP:0000657	Oculomotor apraxia	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0000657	HP:0000657	Oculomotor apraxia	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0000657	HP:0000657	Oculomotor apraxia	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0000657	HP:0000657	Oculomotor apraxia	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0000657	HP:0000657	Oculomotor apraxia	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	124
HP:0000657	HP:0000657	Oculomotor apraxia	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0000657	HP:0000657	Oculomotor apraxia	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	45
HP:0000657	HP:0000657	Oculomotor apraxia	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	76
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.	4
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate	33
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	82
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	82
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	166
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0000657	HP:0000657	Oculomotor apraxia	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0000657	HP:0000657	Oculomotor apraxia	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000657	HP:0000657	Oculomotor apraxia	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000657	HP:0000657	Oculomotor apraxia	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000657	HP:0000657	Oculomotor apraxia	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0000657	HP:0000657	Oculomotor apraxia	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0000657	HP:0000657	Oculomotor apraxia	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional	31
HP:0000657	HP:0000657	Oculomotor apraxia	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent	31
HP:0000657	HP:0000657	Oculomotor apraxia	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0000657	HP:0000657	Oculomotor apraxia	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0000657	HP:0000657	Oculomotor apraxia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000657	HP:0000657	Oculomotor apraxia	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0000657	HP:0000657	Oculomotor apraxia	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent	22
HP:0000657	HP:0000657	Oculomotor apraxia	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0000657	HP:0000657	Oculomotor apraxia	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0000657	HP:0000657	Oculomotor apraxia	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent	19
HP:0000657	HP:0000657	Oculomotor apraxia	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	HP:0040283 - Occasional	19
HP:0000657	HP:0000657	Oculomotor apraxia	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19

Genes (104) :ABCA7 ABCD1 AFG3L2 AHI1 APP APTX ARL13B ARL3 ARMC9 ATP1A2 ATP1A3 ATXN2 B9D1 B9D2 BCR BLTP1 BRAF CACNA1A CACNA1G CBY1 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CRKL CSPP1 CWF19L1 DLAT DNM1L EXOSC3 FA2H GBA1 GPAA1 GRID2 H4C11 HYLS1 IFT172 IFT74 INPP5E ITPR1 KATNIP KCNH1 KDM1A KIAA0586 KIAA0753 LAMA1 MAPK1 MAPT MAST1 MKS1 MRE11 MYO9A NGLY1 NPHP1 PDE6D PEX2 PGAP2 PGAP3 PIBF1 PIGL PIGO PIGV PIGW PIGY PIK3R5 PMPCA PNKP PNPT1 PSEN1 PSEN2 RORA RPGRIP1L SETX SLC1A3 SLC30A9 SORL1 SOX3 SPR SQSTM1 STUB1 SUFU TCTN1 TCTN2 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOE1 TOGARAM1 TOMM40 TPP1 TREM2 TUBA1A TUBB2B TUBB3 TYROBP UFC1 XRCC1 ZC4H2

Diseases (97) :ORPHA:1020 ORPHA:139396 ORPHA:313772 OMIM:614487 ORPHA:475 OMIM:608629 ORPHA:220493 OMIM:208920 OMIM:612291 OMIM:618161 ORPHA:2131 OMIM:183090 OMIM:617120 ORPHA:261330 OMIM:617822 OMIM:115150 OMIM:618087 OMIM:619111 OMIM:612285 ORPHA:1454 OMIM:616781 OMIM:617761 OMIM:610188 OMIM:614464 OMIM:614615 OMIM:615636 ORPHA:397715 ORPHA:453521 OMIM:616127 OMIM:245348 OMIM:614388 OMIM:614678 ORPHA:171629 OMIM:230900 ORPHA:2072 ORPHA:529665 OMIM:616204 OMIM:619759 OMIM:615630 OMIM:619582 OMIM:213300 ORPHA:208513 OMIM:135500 OMIM:616728 ORPHA:477993 OMIM:619476 ORPHA:370022 OMIM:615960 ORPHA:240094 OMIM:618273 OMIM:617121 ORPHA:251347 OMIM:604391 OMIM:618198 ORPHA:404454 OMIM:609583 ORPHA:220497 OMIM:615665 OMIM:614867 ORPHA:247262 OMIM:617767 OMIM:615217 ORPHA:64753 ORPHA:1170 OMIM:616267 ORPHA:459033 OMIM:608703 OMIM:618060 OMIM:619113 OMIM:611560 OMIM:606002 OMIM:617595 ORPHA:67045 OMIM:612716 OMIM:617145 ORPHA:412057 OMIM:617757 OMIM:617562 OMIM:617563 OMIM:614465 OMIM:608091 OMIM:619562 OMIM:614970 ORPHA:2752 OMIM:216360 OMIM:610688 OMIM:614969 OMIM:619185 ORPHA:284324 ORPHA:2770 ORPHA:467166 ORPHA:300570 OMIM:618076 OMIM:617633 ORPHA:3454 OMIM:314580 OMIM:301041

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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