| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2q34 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | AR | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q34 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | AR | 3 | UNC80 | 612636 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q34 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR | 3 | 616801 | UNC80 | 612636 |
| 4q24 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | AR | 3 | 616900 | TBCK | 616899 |
| 13q32.3-q33.1 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | AR | 3 | 615419 | NALCN | 611549 |
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