A14696G-F2

**Figure 1\. Pedigree diagram for family A14696G\-F2\.**

![](/media/202606/20260626170512452162.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14696 | m.14696A\>G | A14696G\-F2 | Finland | Psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits | 3 | 0 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) |  |

The **m.14696A\>G** variant in MT\-TE was reported in family A14696G\-F2 from Finland with psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Healthy |  |
| 2 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-II2 | Fam | F | N | N | A | ND | 66% | / | / | / | Healthy |  |
| 3 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-III1 | Fam | F | Y | Y | A | 6 years 1 month | 99% | 98% | / | / | Psychomotor delay, muscle hypotonia, severe dysphasia, motor deficits |  |
| 4 | 14696 | m.14696A\>G | A14696G\-F2 | A14696G\-F2\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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