Oculomotor apraxia

Symptom Information:

Symptom ID: HPO:0000657
Synonyms:
Defective or absent horizontal voluntary eye movements [HPO:0000657]
Ocular motor apraxia [HPO:0000657]
Oculomotor apraxia (disorder) [Orphanet:5960]
Defective or absent horizontal voluntary eye movements [OMIM:Defective or absent horizontal voluntary eye movements]
Ocular motor apraxia [OMIM:Ocular motor apraxia]
Oculomotor apraxia [OMIM:Oculomotor apraxia]
Oculomotor apraxia/dyspraxia [Orphanet:5960]
Congenital oculomotor apraxia [Orphanet:5960]
Congenital oculomotor apraxia [MedDRA:10053877]
Cogan's oculomotor apraxia [MedDRA:10053877]
Oculomotor apraxia (56% of patients) [OMIM:Oculomotor apraxia (56% of patients)]
Oculomotor apraxia (in 86% of patients) [OMIM:Oculomotor apraxia (in 86% of patients)]
Oculomotor apraxia (in some patients) [OMIM:Oculomotor apraxia (in some patients)]
Oculomotor apraxia (variable) [OMIM:Oculomotor apraxia (variable)]
Quality:
Cross references:
Orphanet:5960 "Oculomotor apraxia/dyspraxia" [Orphanet:5960]
OMIM: "Defective or absent horizontal voluntary eye movements" [OMIM:Defective or absent horizontal voluntary eye movements]
OMIM: "Ocular motor apraxia" [OMIM:Ocular motor apraxia]
OMIM: "Oculomotor apraxia" [OMIM:Oculomotor apraxia]
OMIM: "Oculomotor apraxia (56% of patients)" [OMIM:Oculomotor apraxia (56% of patients)]
OMIM: "Oculomotor apraxia (in 86% of patients)" [OMIM:Oculomotor apraxia (in 86% of patients)]
OMIM: "Oculomotor apraxia (in some patients)" [OMIM:Oculomotor apraxia (in some patients)]
OMIM: "Oculomotor apraxia (variable)" [OMIM:Oculomotor apraxia (variable)]
Is a (Direct Parents):
HPO         Abnormality of eye movement
MedDRA Ocular disorders congenital NEC
HPO         Apraxia
Orphanet Abnormality of eye movement
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of central motor function(HPO:0011442)
                Apraxia(HPO:0002186)
                   Oculomotor apraxia(HPO:0000657)
             Abnormality of higher mental function(HPO:0011446)
                Apraxia(HPO:0002186)
                   Oculomotor apraxia(HPO:0000657)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Abnormality of eye movement(HPO:0000496)
                Oculomotor apraxia(HPO:0000657)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          Oculomotor apraxia(HPO:0000657)
Database Frequency: 54 / 7739
Resource:

All diseases associated with this symptom:

15q11q13 microduplication syndrome (Orphanet:238446)
ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH (OMIM:208910)
Adenylosuccinate lyase deficiency (Orphanet:46)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
CAMOS syndrome (Orphanet:83472)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Free sialic acid storage disease (Orphanet:834)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 17 (OMIM:614615)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 20 (OMIM:614970)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 4 (OMIM:609583)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome 7 (OMIM:611560)
Joubert syndrome 8 (OMIM:612291)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Nasu-Hakola disease (Orphanet:2770)
Ocular motor apraxia, Cogan type (Orphanet:1125)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Perrault Syndrome (Orphanet:2855)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Posterior cortical atrophy (Orphanet:54247)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase deficiency (Orphanet:765)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)