Phenotypes for disease #01672 (EAOH (ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH)), OMIM:208920)

59 entries on 1 page. Showing entries 1 - 59.
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0000067722 ataxia with oculomotor apraxia type 1 - - Unknown - - - - - Andreas Laner 00034767
0000157529 gait ataxia, mild axial and limb ataxia, dysarthria, areflexia, loss of pallesthesia, cerebellar atrophy, decreased motor conduction in lower limbs, right extensor plantar response, mild upper limb dystonia, moderate ptosis of the left lid, pes cavus, Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208922
0000157530 cerebellar ataxia, oculomotor apraxia, severe choria, dystonia face + hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, pes cavus, scoliosis Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208923
0000157531 typical AOA1 phenotype + marked dystonia and masklike faces Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Sergio Piñeiro 00208924
0000157532 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208925
0000157533 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208926
0000157534 ataxia, ophthalmoparesis, nystagmus, mild mental retardation Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208927
0000157535 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208928
0000157536 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208929
0000157538 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208931
0000157539 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208932
0000157540 gait ataxia, ocular apaxia, hyporeflexia, dysarthria, cerebellar atrophy, severe mental retardation (before ataxia onset) Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208933
0000157541 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208934
0000157542 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208935
0000157544 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208937
0000157545 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208938
0000157546 progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208939
0000157547 cerebellar ataxia, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, scoliosis Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208940
0000157548 cerebellar ataxia, choria, dystonia hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208941
0000157549 cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedema Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208942
0000157550 cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedemam pes cavus, scoliosis Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208943
0000157551 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208944
0000157552 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208945
0000157553 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208946
0000157554 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208947
0000157555 cerebellar ataxia, ocular apraxia, ...(not complete clinical information). Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208948
0000157556 progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208949
0000157557 ataxic gait, dysmetria, diffuse distal leg and hand hypotrophy, absence of deep tendon reflexes (DTR), pes , cavus, with intact strength and sensation, dysarthria, difficulties in visual pursuit with ocular , esotropia, flaccid tetraplegia, severe hypotrophy, hypotonia and areflexia. severe axonal neuropathy more severe at the lower limbs. Severe cerebellar atrophy. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208950
0000157558 Severe gait limb ataxia. Moderate dysarthria, defects of saccadic initiation and choreoathetosis. Mild distal weakness lower and upper limbs, muscular wasting, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, Babinksi sign and deep tendon reflexes lower limbs absent. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208951
0000157559 Moderate gait limb ataxia. Mild dysarthria. Metal retardation and deep tendon reflexes lower limbs absent. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208952
0000157560 Severe gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs. Moderate muscular wasting. Mildchoreoathetosis, Mild distal weakness upper limbs, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, deep tendon reflexes lower limbs absent. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208953
0000157561 Moderate gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs and decreased vibration sense lower limbs. Mild muscular wasting. Nystagmus and deep tendon reflexes lower limbs absent. Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Sergio Piñeiro 00208954
0000157562 - Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208955
0000157563 ataxic gait, cerebellar ataxia, oculomotor apraxia, distal sensory disturbance, cerebellar atrophy, areflexia, distal muscle wasting, decreased motor nerve action potential, motor nerve conduction velocities and sensory action potentials Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208956
0000157564 - Ataxia-ocular apraxia type ½ EAOH Unknown - - - - - Rick van Minkelen 00208957
0000157565 - Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208958
0000157566 - Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208959
0000157567 - Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208960
0000157568 oculomotor apraxia, nystagmus (no further details given by physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208961
0000157569 motoric and axonal sensible polyneuropathy, very mild dysarthria, very mild cerebellar ataxia Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208962
0000157570 cerebellar ataxia (not further details given by physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208963
0000157571 psychomotor retardation, epilepsy, clinically AOA1 (no details provided by requesting physician). Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208964
0000157572 cerebellar ataxia, oculomotor apraxia (no further details given by physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208965
0000157573 cerebellar ataxia (no further details given by physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208966
0000157574 no details given by physician Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208967
0000157575 mild AOA1 phenotype (no details provided by requesting physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208968
0000157576 unknown ataxia (no further details given by physician), Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208969
0000157577 no details provided by requesting physician Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208970
0000157578 cerebellar ataxia, polyneuropathy, dysarthria, nystagmus, gait ataxia, mild cerebellar atrophy Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208971
0000157579 cerebellar ataxia, cerebellar dysarthria, oculomotor apraxia, legs parese iliopsoas 4+/4+, areflexia, Q10 deficiency, polyneuropathy, Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208972
0000157580 no details provided by requesting physician Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208973
0000157581 cerebellar ataxia, cerebellar atrophy, oculomotor apraxia, ataxic gait, dysmetria, distal limb dystonia, sensitive axonal polyneuropathy, bilateral spontaneous Babinski and rotulian and achillean hyporeflexia Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208974
0000157582 oculomotor apraxia, severe dysarthria, dysmetria, bradykinesia, cerebellar atrophy, reduced deep tendon reflexes, widespread cognitive impairment Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208975
0000157583 mild scoliosis, nystagmus, mild tremor, gait ataxia, areflexia Ataxia-ocular apraxia type 1 EAOH Familial, autosomal recessive - - - - - Rick van Minkelen 00208976
0000157584 - Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208977
0000157585 no details provided by requesting physician Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208978
0000157586 no details provided by requesting physician Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen 00208979
0000157587 see paper; ... early onset cerebellar ataxia associated with oculomotor apraxia. EAOH Familial, autosomal recessive - - - - - Johan den Dunnen 00208980
0000157588 see paper; ... early onset cerebellar ataxia associated with oculomotor apraxia EAOH Familial, autosomal recessive - - - - - Johan den Dunnen 00208981
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