All individuals with variants in gene ABHD16A

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00384968 Fam1P1 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M no Canada French-Canadian - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no neuropathy; seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 2 Johan den Dunnen
00384969 Fam1P2 PubMed: Lemire 2021 sister F no Canada French-Canadian - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 1 Johan den Dunnen
00384970 Fam2P3 PubMed: Lemire 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Canada French-Canadian - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 2 Johan den Dunnen
00384971 Fam2P4 PubMed: Lemire 2021 sister F no Canada French-Canadian - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 1 Johan den Dunnen
00384972 Fam3P5 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Armenia - - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 2 Johan den Dunnen
00384973 Fam3P6 PubMed: Lemire 2021 brother M yes Armenia - - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; seizures; thin corpus callosum; white matter anomalies; autism spectrum disorder, self-injurious behavior 1 1 Johan den Dunnen
00384974 Fam4P7 PubMed: Lemire 2021 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no - Europe - - - - NDD intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; white matter anomalies; autism spectrum disorder, self-injurious behavior 2 1 Johan den Dunnen
00384975 Fam5P8 PubMed: Lemire 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies 1 2 Johan den Dunnen
00384976 Fam5P9 PubMed: Lemire 2021 sister F yes Egypt - - - - - NDD intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; no white matter anomalies; no behavioral anomalies 1 1 Johan den Dunnen
00384977 Fam6P10 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Pakistan - - - - - NDD intellectual disability, global developmental delay; no upper limb spasticity; joint contractures; no seizures; no thin corpus callosum; white matter anomalies; no behavioral anomalies 1 2 Johan den Dunnen
00384978 Fam6P11 PubMed: Lemire 2021 brother M yes Pakistan - - - - - NDD intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no seizures; no thin corpus callosum; white matter anomalies; no behavioral anomalies 1 1 Johan den Dunnen
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