Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:25031118
- GRCh38:
- ChrX:25013001
| ARX | R332C | Corpus callosum, agenesis of, Arachnoid cyst, Periventricular heterotopia
| Likely pathogenic
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:67783612
- GRCh38:
- Chr14:67316895
| GPHN, PALS1 | E396G, E430G | Abnormal facial shape, Arachnoid cyst, Anxiety,
Cerebral palsy, Intellectual disability | Pathogenic | criteria provided, single submitter |
| | | | Attention deficit hyperactivity disorder, Arachnoid cyst, Delayed speech and language development,
Oppositional defiant disorder, Compulsive behaviors, Global developmental delay,
Somatic sensory dysfunction | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |