| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5q14.3 | Chromosome 5q14.3 deletion syndrome | 613443 | AD | 4 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 613443 | AD | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 5q14.3 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 613443 | AD | 3 | MEF2C | 600662 |
| 5q14.3 | Chromosome 5q14.3 deletion syndrome | 613443 | AD | 4 | MEF2C | 600662 |
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