Disease #03872 (CAMRQ4 (ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 4 (CAMRQ-4)), OMIM:615268)

Official abbreviation CAMRQ4
Name ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 4 (CAMRQ-4)
OMIM ID 615268
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ATP8A2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00295630 PatA1 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 09y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; 1y-seizures generalized tonic-clonic; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 1y-first words; microcephaly; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; no pes planus; feeding difficulties; oligodontia, dental malalignment, delayed totth eruption; no gingival hyperplasia; no joint stiffness - ATP8A2 1 1 Ehsan Jafarinia
00295631 PatA2 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 07y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; no seizures; choreathetosis (especially upper limbs); no tremor; head titubation; decreased lower limbs deep tendon reflexes, decreased upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 5y6m-first words; no microcephaly, below-average head circumference; MRI brain mild frontotemporal cortical atrophy, deepening of bilateral sylvian fissure, abnormal opercularization, thinning of the corpus callosum, white matter volume loss; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; mild pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; gingival hyperplasia; joint stiffness - ATP8A2 1 1 Ehsan Jafarinia
00295632 PatA3 PubMed: Heidari 2021, Journal: Heidari 2021 2-generation family, 1 affected, unaffected parents M yes Iran - 02y - - - CAMRQ4 developmental delay, intellectual disability, walking disability, hypotonia, muscle weakness, decreased muscles bulk, failure to thrive; generalized tonic-clonic seizures; choreathetosis (especially upper limbs); no tremor; head titubation; normal lower limbs deep tendon reflexes, normal upper limbs deep tendon reflexes, Babinski reflex; not ambulant (bed-ridden); dystonia; facial dyskinesia; 10m-first words; no microcephaly, below-average head circumference; MRI brain normal; ophthalmoplegia; no nystagmus; optic atrophy; no hearing impairment; pes planus; feeding difficulties; dental malalignment, early dental decay, delayed tooth eruption; mild gingival hyperplasia; joint stiffness - ATP8A2 1 1 Ehsan Jafarinia
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