Disease #03679

Official abbreviation ICRD
Name degeneration, cerebellar-retinal, infantile (ICRD)
OMIM ID 614559
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene ACO2
Associated tissues -
Disease features onset between ages 2m-6m truncal hypotonia, athetosis, seizures, ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration, profound psychomotor retardation only some achieving rolling, sitting, or recognition of family, brain MRI shows progressive cerebral and cerebellar degeneration
Remarks autosomal recessive


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00105908 22405087_FamAPatIV3 PubMed: Spiegel 2012, Journal: Spiegel 2012 5-generation family, 8 affecteds (5F, 3M), unaffected heterozygous carrier parents/relatives M yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 8 Johan den Dunnen
00105909 22405088_FamAPatIV5 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatIV5 F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00105910 22405089_FamAPatV2 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatV2 F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00105911 22405090_FamAPatV5 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatV5 F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00105912 22405091_FamAPatV7 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatV7 M yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00105913 22405092_FamBPatIII1 PubMed: Spiegel 2012, Journal: Spiegel 2012 3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 3 Johan den Dunnen
00105914 22405092_FamBPatIII2 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatIII2 F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00105915 22405092_FamBPatIII3 PubMed: Spiegel 2012, Journal: Spiegel 2012 PatIII3 F yes Israel Arab - 0 - - ICRD see paper; ..., infantile cerebellar-retinal degeneration OCA2 ACO2 1 1 Johan den Dunnen
00226241 Family A IV-3 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Areflexia (HP:0001284), Strabismus (HP:0000486), Optic atrophy (HP:0000648), Failure to thrive (HP:0001508), Seizures (HP:0001250), Ataxia (HP:0001251), Profound global developmental delay (HP:0012736), Vegetative state (HP:0031358) ACO2 ACO2 1 1 Thomas Foulonneau
00226242 Family A IV-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Abnormality of the cerebral white matter (HP:0002500), Athetosis (HP:0002305), Intellectual disability (HP:0001249), Ataxia (HP:0001251),Seizures (HP:0001250), Optic atrophy(HP:0000648), Strabismus(HP:0000486), Retinal dystrophy severe (HP:0000556), Cerebellar atrophy (HP:0001272), Hyperreflexia (HP:0001347), Scoliosis (HP:0002650), Profound global developmental delay (HP:0012736), ACO2 ACO2 1 1 Thomas Foulonneau
00226243 Family A V-2 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Muscular hypotonia of the trunk (HP:0008936), Failure to thrive (HP:0001508), Seizures (HP:0001250), Cerebellar atrophy (HP:0001272), Profound global developmental delay (HP:0012736), Areflexia (HP:0001284), Nystagmus(HP:0000639), Optic atrophy (HP:0000648), Hypoplasia of the corpus callosum (HP:0002079), Abnormality of the cerebral white matter (HP:0002500), Aplasia/Hypoplasia of the cerebellum (HP:0007360), Sensorineural hearing loss (HP:0000407) ACO2 ACO2 1 1 Thomas Foulonneau
00226259 Family A V-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Muscular hypotonia of the trunk (HP:0008936), ), Failure to thrive (HP:0001508), Seizures (HP:0001250), Cerebellar atrophy (HP:0001272),Profound global developmental delay( HP:0012736), Sensorineural hearing impairment (HP:0000407), Areflexia (HP:0001284), Hyporeflexia/Reduced tendon reflexes( HP:0001315), Strabismus(HP:0000486), Nystagmus( HP:0000639), Retinal dystrophy (HP:0000556), Ataxia (HP:0001251), Muscular hypotonia (HP:0001252), Optic atrophy (HP:0000648), Strabismus (HP:0000486), Intellectual disability (HP:0001249), Sensorineural hearing impairment (HP:0000407), Aplasia/Hypoplasia of the cerebellum(HP:0007360), Hypoplasia of the corpus callosum (HP:0002079), Abnormality of the cerebral white matter (HP:0002500) ACO2 ACO2 1 1 Thomas Foulonneau
00226260 Family A V-7 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - ICRD Strabismus (HP:0000486), Intellectual disability (HP:0001249), Ataxia (HP:0001251) ACO2 ACO2 1 1 Thomas Foulonneau
00226261 Family B III-1 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Muscular hypotonia of the trunk (HP:0008936), Failure to thrive (HP:0001508), Seizures (HP:0001250), Cerebellar atrophy (HP:0001272), Ataxia (HP:0001251), Profound global developmental delay (HP:0012736), Areflexia (HP:0001284), No eye contact (HP:0000817), Nystagmus (HP:0000639), Retinal dystrophy (HP:0000556), Optic atrophy (HP:0000648), ), Hypoplasia of the corpus callosum (HP:0002079) ACO2 ACO2 1 1 Thomas Foulonneau
00226262 Family B III-2 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Muscular hypotonia of the trunk (HP:0008936), Failure to thrive (HP:0001508), Seizures (HP:0001250), Cerebellar atrophy (HP:0001272), Abnormality of the cerebral white matter (HP:0002500), Hyporeflexia/Reduced tendon reflexes (HP:0001315), Profound global developmental delay ( HP:0012736), Retinal dystrophy (HP:0000556), Nystagmus (HP:0000639), Ataxia (HP:0001251), Muscular hypotonia(HP:0001252), Optic atrophy (HP:0000648), No eye contact (HP:0000817) ACO2 ACO2 1 1 Thomas Foulonneau
00226263 Family B III-3 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - ICRD Athetosis (HP:0002305), Muscular hypotonia of the trunk (HP:0008936), Failure to thrive (HP:0001508), Cerebellar atrophy (HP:0001272), Profound global developmental delay ( HP:0012736), Areflexia (HP:0001284), Strabismus (HP:0000486), Nystagmus (HP:0000639), Retinal dystrophy (HP:0000556), Optic atrophy(HP:0000648), Aplasia/Hypoplasia of the cerebellum (HP:0007360), Ataxia (HP:0001251), Muscular hypotonia (HP:0001252) ACO2 ACO2 1 1 Thomas Foulonneau
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