All individuals with variants in gene CAMSAP1

8 entries on 1 page. Showing entries 1 - 8.
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00426065 Fam1PatV1 PubMed: Khalaf-Nazzal 2022 5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Palestine - - - - - NDD birth microcephaly; profound global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; increased plantar reflexes; 1m-seizures; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia; hyperopia with astigmatism, clinodactyly 1 3 Johan den Dunnen
00426066 Fam1PatIV10 PubMed: Khalaf-Nazzal 2022 - F yes Palestine - - - - - NDD 1m-microcephaly; profound global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; increased plantar reflexes; no seizures; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia; clinodactyly 1 1 Johan den Dunnen
00426067 Fam1PatIV11 PubMed: Khalaf-Nazzal 2022 - M yes Palestine - - - - - NDD birth microcephaly; profound global developmental delay; decreased central tone; 2m-seizures; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; cerebellar hypoplasia 1 1 Johan den Dunnen
00426068 Fam2PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - - - - NDD birth microcephaly; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes, brisk; 4m-5m seizures; EEG modified hypsarrhythmia; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; no high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, scoliosis 2 1 Johan den Dunnen
00426069 Fam3PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected parents M no United States - - - - - NDD 4m-microcephaly; severe global developmental delay; decreased central tone; decreased peripheral tone; increased deep tendon reflexes; absent plantar reflexes; 4m-seizures; EEG hypsarrhythmia; cortical visual impairment; gastrostomy; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; cerebellar hypoplasia 2 1 Johan den Dunnen
00426070 Fam4PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - NDD birht OFC32 (-2.5); severe global developmental delay; severely decreased central tone; increased peripheral tone; increased deep tendon reflexes; 5m-seizures; EEG burst suppression; cortical visual impairment; feeding difficulties; no prominent metopic suture; wide nasal bridge; no pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, femoral hernia 1 1 Johan den Dunnen
00426071 Fam5PatII1 PubMed: Khalaf-Nazzal 2022 2-generation family, 1 affected, unaffected parents F - United States - 5y6m - - - NDD birth OFC 31.8 (-2.2); 5y6m-deceased; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; 2m-seizures; EEG multifocal epileptiform discharges; cortical visual impairment; gastrostomy; no prominent metopic suture; wide nasal bridge; pronounced cupids bow; no large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia 1 1 Johan den Dunnen
00426173 12DK11500 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - ID Facial dysmorphic features, severe neurodevelopmental delay, cortical visual impairment and seizures 1 1 Johan den Dunnen
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