Marseille Medical Genetics, U1251 (Aix Marseille University, Inserm)

General information

Marseille Medical Genetics, U1251
Aix Marseille University, Inserm
Marseille
France

Organization ID: 506640

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 13

Gene

GeneSubmissionsLast Updated
CFAP2513Jul 6, 2018
EXT21Jul 12, 2018
MTX25Feb 28, 2020
VRK12Feb 14, 2019
YARS12Jun 20, 2019

Condition

NameSubmissionsLast Updated
Abnormality of body height1Feb 28, 2020
Abnormality of skin pigmentation1Feb 28, 2020
Abnormality of the mandible1Feb 28, 2020
Acroosteolysis of distal phalanges (feet)1Feb 28, 2020
Dental crowding1Feb 28, 2020
Distal hereditary motor neuropathy associated with upper motor neuron signs2Feb 14, 2019
Facial shape deformation1Feb 28, 2020
Hypertensive disorder1Feb 28, 2020
Male infertility with teratozoospermia due to single gene mutation2Jul 6, 2018
Micrognathia1Feb 28, 2020
Non-syndromic male infertility due to sperm motility disorder2Jul 6, 2018
Postnatal growth retardation1Feb 28, 2020
Progeroid facial appearance1Feb 28, 2020
Progeroid mandibuloacral dysplasia4Jul 24, 2019
Seizures, scoliosis, and macrocephaly syndrome1Jul 12, 2018
asthenozoospermia1Jun 29, 2018
dysplasia of the mitochondrial sheath1Jun 29, 2018
multiple morphologic abnormalities of the sperm flagellum1Jun 29, 2018
recessive ARS-related multisystem disease2Jun 20, 2019
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