Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
The diagnosis of intellectual disability is made using IQ measured by the Wechsler adult intelligence scale.
None
| Disorder | Clinical features | Associated features | Investigations | Disease modifying treatment available | Time critical |
|---|---|---|---|---|---|
| Norrie disease |
Visual loss Cataracts |
Cataplexy |
|||
| Angelman syndrome |
Seizure Ataxia |
| Gene | ||
|---|---|---|
| ALG13 | Search ClinVar | Search ClinGen |
| CASK | Search ClinVar | Search ClinGen |
| CHD2 | Search ClinVar | Search ClinGen |
| STX1A | Search ClinVar | Search ClinGen |
None
None
| Laboratory Investigation | Result |
|---|
None
None