All individuals with variants in gene JKAMP

14 entries on 1 page. Showing entries 1 - 14.
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AscendingIndividual ID     
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00474074 Fam1PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy Europe - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain normal (hemosiderin deposit); microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms 2 1 Johan den Dunnen
00474075 Fam2PatIII1 PubMed: Chacon-Millan 2026 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Palestine Arab;muslim - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474076 Fam2PatIII2 PubMed: Chacon-Millan 2026 brother M yes Palestine Arab - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474077 Fam3PatII4 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey Europe - - - - NDD see paper; ..., speech delay; motor delay; seizures; no hypotonia; no cardiac anomalies; MRI brain mild cerebral atrophy; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474078 Fam4PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global brain atrophy, delayed myelination, bilateral choroid plexus cysts; visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474079 Fam5PatVI3 PubMed: Chacon-Millan 2026 6-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland Europe - - - - NDD see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; MRI brain mild dilatation of frontal liquor spaces, delayed myelination; no visual impairment; skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474080 Fam6PatII1 PubMed: Chacon-Millan 2026 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia Arab - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms; cryptorchidism, hypospadias 1 1 Johan den Dunnen
00474081 Fam6PatII2 PubMed: Chacon-Millan 2026 brother M yes Saudi Arabia Arab - - - - NDD see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy; no visual impairment; no skeletal abnormalities; facial dysmorphisms; cryptorchidism, hypospadias 1 1 Johan den Dunnen
00474082 Fam7PatII1 PubMed: Chacon-Millan 2026 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes United States Europe;Mennonite - - - - NDD see paper; ..., deceased; speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain diffuse cerebral atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms; micropenis 1 1 Johan den Dunnen
00474083 Fam7PatII2 PubMed: Chacon-Millan 2026 sister F yes United States Europe;Mennonite - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain global cerebral atrophy, diffuse demyelinating disease; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474084 Fam7PatII3 PubMed: Chacon-Millan 2026 brother M yes United States Europe;Mennonite - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild atrophy; microcephaly; no visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474085 Fam8PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany;Ireland Europe - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; no visual impairment; skeletal abnormalities; facial dysmorphisms 2 1 Johan den Dunnen
00474086 Fam9PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Arab - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; cardiac anomalies; MRI brain normal; microcephaly; visual impairment; no skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
00474087 Fam10PatII1 PubMed: Chacon-Millan 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Ukraine Europe - - - - NDD see paper; ..., speech delay; motor delay; seizures; hypotonia; no cardiac anomalies; MRI brain mild cortical atrophy, delayed myelination; no visual impairment; skeletal abnormalities; facial dysmorphisms 1 1 Johan den Dunnen
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