Medical Genetics Laboratory
(CHRU Nancy)
General information
Medical Genetics Laboratory
CHRU Nancy
rue du Morvan
Vandoeuvre-les-Nancy
Lorraine
France - 54100
Organization ID: 507803
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 91
Condition
| Name | Submissions | Last Updated | | 3-4 finger syndactyly | 1 | Mar 18, 2021 |
| Abnormal brain morphology | 1 | Mar 18, 2021 |
| Abnormal duodenum morphology | 1 | Feb 8, 2021 |
| Abnormal facial shape | 2 | Mar 18, 2021 |
| Abnormal fetal cardiovascular morphology | 2 | Feb 8, 2021 |
| Abnormal optic chiasm morphology | 1 | Feb 8, 2021 |
| Abnormality of the anus | 1 | Feb 8, 2021 |
| Abnormality of the head | 2 | Feb 8, 2021 |
| Abnormality of the kidney | 1 | Mar 18, 2021 |
| Aicardi syndrome | 1 | Feb 8, 2021 |
| Aplasia of the vagina | 1 | Feb 8, 2021 |
| Atypical behavior | 6 | Mar 18, 2021 |
| Autism | 8 | Mar 18, 2021 |
| Autism with high cognitive abilities | 3 | Mar 18, 2021 |
| Broad thumb | 1 | Mar 18, 2021 |
| Cardiomyopathy | 1 | Mar 18, 2021 |
| Cerebellar vermis hypoplasia | 1 | Mar 18, 2021 |
| Cleft lip | 2 | Mar 18, 2021 |
| Coarctation of aorta | 1 | Mar 18, 2021 |
| Corpus callosum, agenesis of | 5 | Mar 18, 2021 |
| Cryptorchidism | 2 | Mar 18, 2021 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 1 | Mar 10, 2022 |
| Delayed speech and language development | 14 | Mar 18, 2021 |
| Developmental regression | 1 | Mar 18, 2021 |
| Ectopic scrotum | 1 | Mar 18, 2021 |
| Epileptic encephalopathy | 2 | Feb 8, 2021 |
| Epileptic spasm | 1 | Mar 18, 2021 |
| Facial asymmetry | 1 | Feb 8, 2021 |
| Familial atrioventricular septal defect | 1 | Feb 8, 2021 |
| Fetal growth restriction | 4 | Mar 18, 2021 |
| Functional abnormality of the bladder | 1 | Feb 8, 2021 |
| Generalized hypotonia | 3 | Mar 18, 2021 |
| Global developmental delay | 23 | Mar 18, 2021 |
| Hand polydactyly | 1 | Mar 18, 2021 |
| Hearing impairment | 1 | Feb 8, 2021 |
| Hydronephrosis | 1 | Feb 8, 2021 |
| Hypertrichosis | 1 | Mar 18, 2021 |
| Intellectual disability | 2 | Feb 8, 2021 |
| Intracranial hemorrhage | 1 | Mar 18, 2021 |
| Isolated Pierre-Robin syndrome | 1 | Mar 18, 2021 |
| Lissencephaly | 1 | Feb 8, 2021 |
| Lower limb asymmetry | 1 | Feb 8, 2021 |
| Mayer-Rokitansky-Kuster-Hauser syndrome | 1 | Feb 8, 2021 |
| Microcephaly | 7 | Mar 18, 2021 |
| Motor delay | 4 | Mar 18, 2021 |
| Neurodevelopmental delay | 8 | Mar 18, 2021 |
| Obesity | 1 | Mar 18, 2021 |
| Overgrowth | 1 | Feb 8, 2021 |
| Overweight | 1 | Feb 8, 2021 |
| Penile hypospadias | 1 | Feb 8, 2021 |
| Poland anomaly | 1 | Feb 8, 2021 |
| Polyhydramnios | 1 | Feb 8, 2021 |
| Poor motor coordination | 1 | Mar 18, 2021 |
| Positional foot deformity | 2 | Mar 18, 2021 |
| Potocki-Lupski syndrome | 1 | Mar 18, 2021 |
| Pseudohypoaldosteronism | 1 | Feb 8, 2021 |
| Renal hypoplasia | 1 | Mar 18, 2021 |
| Rett syndrome | 1 | Feb 8, 2021 |
| Scoliosis | 1 | Mar 18, 2021 |
| Seizure | 2 | Mar 18, 2021 |
| Severe intrauterine growth retardation | 1 | Feb 8, 2021 |
| Severe sensorineural hearing impairment | 1 | Feb 8, 2021 |
| Severe short stature | 1 | Mar 18, 2021 |
| Short nose | 1 | Feb 8, 2021 |
| Short stature | 3 | Mar 18, 2021 |
| Smith-Magenis syndrome | 1 | Mar 18, 2021 |
| Strabismus | 1 | Mar 18, 2021 |
| Syndactyly | 1 | Mar 18, 2021 |
| Transverse facial cleft | 3 | Mar 18, 2021 |
| Trigonocephaly | 1 | Mar 18, 2021 |
| Unilateral renal agenesis | 1 | Feb 8, 2021 |
| Upper limb asymmetry | 1 | Feb 8, 2021 |
| Williams syndrome | 1 | Mar 18, 2021 |
