All individuals with variants in gene DENND5B

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     
ID_report     
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Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00436153 Pat1 Journal: Scala 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? psychomotor delay; motor delay; no speech delay; intellectual disability; mild developmental delay; facial dysmorphism; macrocephaly; abnormal behavior; no autism spectrum disorder; attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; spastic diplegia; no dysarthria; sleep disorder; no epilepsy; 4y-febrile seizure, one episode; MRI brain white matter involvement, subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, ventricular enlargement, gyration defects 1 1 Marcello Scala
00436155 Pat3 Journal: Scala 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? psychomotor delay; motor delay; speech delay; intellectual disability; severe developmental delay; facial dysmorphism; microcephaly; hypotonia; dysarthria; epilepsy; 1y-onset focal seizure; EEG focal discharges, slowing of background activity; MRI brain white matter involvement, subcortical abnormalities, no corpus callosum hypoplasia, optic chiasm hypoplasia, no ventricular enlargement, no gyration defects 1 1 Marcello Scala
00436156 Pat2 Journal: Scala 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - ? psychomotor delay; motor delay; speech delay; no intellectual disability; mild developmental delay; no facial dysmorphism; macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; no hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal; MRI brain no white matter involvement, no subcortical abnormalities, no corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, gyration defects 1 1 Marcello Scala
00436157 Pat5 Journal: Scala 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? psychomotor delay; motor delay; speech delay; intellectual disability; mild developmental delay; no facial dysmorphism; no macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; hypotonia; no spasticity; no dysarthria; sleep disorder; epilepsy; 1y-onset multifocal seizures; EEG multifocal discharges, slowing of background activity; MRI brain white matter involvement, no subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, no gyration defects 1 1 Marcello Scala
00436158 Pat4 Journal: Scala 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? psychomotor delay; motor delay; speech delay; moderate developmental delay; no facial dysmorphism; no abnormal behavior; no autism spectrum disorder; no attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal 1 1 Marcello Scala
00436159 DE_6 - - - - - - - - - - ? Developmental delay/intellectual disability, abnormal behavior, seizures, brain abnormalities 1 1 Marcello Scala
00436160 DE_6 - - - - - - - - - - ? Developmental delay/intellectual disability, abnormal behavior, seizures, brain abnormalities 1 1 Marcello Scala
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