Marseille Medical Genetics, U1251 (Aix Marseille University, Inserm)
General information
Personnel
- Michael Mitchell, Principal Investigator
Phone: 0491324909
Email: michael.mitchell@univ-amu.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal mandible morphology | 1 | Feb 28, 2020 |
| Abnormality of body height | 1 | Feb 28, 2020 |
| Abnormality of skin pigmentation | 1 | Feb 28, 2020 |
| Acroosteolysis of distal phalanges (feet) | 1 | Feb 28, 2020 |
| Dental crowding | 1 | Feb 28, 2020 |
| Distal hereditary motor neuropathy associated with upper motor neuron signs | 2 | Feb 14, 2019 |
| Facial shape deformation | 1 | Feb 28, 2020 |
| Hypertensive disorder | 1 | Feb 28, 2020 |
| Male infertility with teratozoospermia due to single gene mutation | 2 | Jul 6, 2018 |
| Micrognathia | 1 | Feb 28, 2020 |
| Non-syndromic male infertility due to sperm motility disorder | 2 | Jul 6, 2018 |
| Postnatal growth retardation | 1 | Feb 28, 2020 |
| Progeroid facial appearance | 1 | Feb 28, 2020 |
| Progeroid mandibuloacral dysplasia | 4 | Jul 24, 2019 |
| Seizures-scoliosis-macrocephaly syndrome | 1 | Jul 12, 2018 |
| asthenozoospermia | 1 | Jun 29, 2018 |
| dysplasia of the mitochondrial sheath | 1 | Jun 29, 2018 |
| multiple morphologic abnormalities of the sperm flagellum | 1 | Jun 29, 2018 |
| recessive ARS-related multisystem disease | 2 | Jun 20, 2019 |