Table 5. Brief Phenotypic Description of Patients with ZMYND11 LoF Variants.
| Patient | Age at Examination | Gender | Mutation | Inheritance | Cognitive | Speech Delay | Social Difficulties | Behavioral Problems | Facial Dysmorphism |
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Adelaide20124 | 4 y & 9y | F | Gln587del | de novo | Global DD | + | + | + | |
| Adelaide3553 | 22y | M | p.Asn152Thrfs*26 | Global DD | + | + | |||
| DNA-017151 | 17 y | F | p.Thr70Asnfs*12 | de novo | Normal IQ | + | + | + | + |
| DNA04-02424 | 41 y | M | p.Gln326* | Mild ID | + | + | + | + | |
| DNA05-04370 | M | p.Glu416Serfs*5 | Severe ID | + | + | + | |||
| DNA-013587 | 25 y | M | p.Met187Ilefs*19 | inherited | Global DD | + | + | + | + |
| Fa of DNA-013587 | M | p.Met187Ilefs*19 | carrier | DD | + | ||||