All individuals with variants in gene COL4A2

13 entries on 1 page. Showing entries 1 - 13.
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Disease     
Phenotype details     
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Owner     
00146558 - - - ? - (Germany) - - - - - ? HP:0001249 (Intellectual disability) 1 1 IMGAG
00248404 - - - F - - - - - - - - HP:0002321 (Vertigo); HP:0002355 (Difficulty walking); HP:0003698 (Difficulty standing); HP:0011389 (Functional abnormality of the inner ear); HP:0004302 (Functional motor problems) 1 1 Andreas Laner
00269343 - - - F - - - - - - - ? Cerebral hemorrhage (HP:0001342) 2 1 Andreas Laner
00290838 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 33 Mohammed Faruq
00290839 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00296453 - - - - - - - - - - - BSVD2;POREN2 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00299440 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Generalized tonic-clonic seizures (HP:0002069); Status epilepticus (HP:0002133); Focal seizures (HP:0007359) 1 1 Andreas Laner
00363527 177212 - - M ? Germany - - - - - BSVD2;POREN2 Dystonic movement disorder, severe generalised dystonia, scoliosis, epilepsy (myoclonic), porencephaly, cognition less affected than motor function, no speech, no voluntary motor function, sister with mild porencephaly 1 1 Andreas Laner
00374273 S-4386 PubMed: Ganapathy 2019 - - - India - - - - - ? Signs suggestive of Charcot-Marie-Tooth disease 1 1 Johan den Dunnen
00410583 Pat45 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - ? see paper; ..., onset childhood, cerebral white matter lesions, epilepsy, mild intellectual disability, family history 1 1 Johan den Dunnen
00436135 Fam5Pat1 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, affected father/son, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; CAKUT (ureter duplex, dysplastic kidneys); no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; no learning disabilities; elementary school; no intellectual disability; no epilepsy 1 2 Johan den Dunnen
00436136 Fam5Pat2 PubMed: Schonauer 2023, Journal: Schonauer 2023 father M - - - - - - - NDD neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; neurogenic bladder; 1 1 Johan den Dunnen
00448541 288388 - - F no Germany - - - - - BSVD2;POREN2 Cerebral palsy, Hemiparesis, Periventricular leukomalacia, Ventriculomegaly, Esodeviation, Delayed speech and language development, Delayed gross motor development, EEG with focal sharp waves, Abnormality of refraction, Symptomatic seizures 1 1 Andreas Laner
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