| | | | Microcephaly, Upper limb hypertonia, Partial agenesis of the corpus callosum,
Absent speech, Pectus excavatum, Hypoplasia of the premaxilla,
Intellectual disability, severe, Shortening of all distal phalanges of the fingers, Lower limb hypertonia,
Hypoplasia of the frontal lobes, Inability to walkHigh palate,
...see more | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Abnormal facial shape, Global developmental delay, Hypotonia,
Hypoplasia of the frontal lobes | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypoplasia of the frontal lobes, Abnormal muscle tone, Achalasia,
Joint laxity, Global developmental delay, Delayed myelination,
Abnormality of the gastrointestinal tract, EEG with abnormally slow frequencies, Prominent forehead,
Epicanthus, Abnormal facial shapeAbsent speech,
Autistic behavior, Abnormality of the ear, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:162280263-162280264
- GRCh38:
- Chr2:161423752-161423753
| TBR1 | T532fs | Gait ataxia, Seizure, Delayed fine motor development,
Severe global developmental delay, Focal cortical dysplasia, Inborn genetic diseases,
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, not provided, Autism, susceptibility to, 5,
Autistic behavior, Abnormal brainstem MRI signal intensityDelayed fine motor development,
Severe global developmental delay, Autistic behavior, Hypoplasia of the frontal lobes,
Gait ataxia, Delayed fine motor development, Severe global developmental delay,
Moderate global developmental delay, Autistic behavior, Severe global developmental delay,
Autistic behavior, Severe global developmental delay, ...see more | Pathogenic/Likely pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |