All individuals with variants in gene NRROS

7 entries on 1 page. Showing entries 1 - 7.
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00056297 - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - ?, WDSTS 46,XY sexual development (DSD), complete gonadal dysgenes, Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels 2 2 Guorui Hu
00296275 Fam1PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, 1 from triplet F yes Iraq - 4y2m - - - ? see paper; ..., deceased;; axial hypotonia; 17m-refractory focal seizures; mild-moderate developmental delay to one year, then regression; MRI brain marked reduction of white matter volume, delayed myelination, thin corpus callosum (17m); 1 3 Johan den Dunnen
00296276 Fam1PatII3 PubMed: Dong 2020, Journal: Dong 2020 2 from triplet M yes Iraq - 3y3m - - - ? see paper; ..., deceased;; axial hypotonia; limb hypertonia; 12m-refractory focal seizures, later development of epileptic spasms; mild-moderate developmental delay to one year, then regression; MRI brain marked reduction of white matter volume, delayed myelination, thin corpus callosum (17m); 1 1 Johan den Dunnen
00296277 Fam1PatII4 PubMed: Dong 2020, Journal: Dong 2020 sister F yes Iraq - - - - - ? see paper; ..., axial hypotonia; limb hypertonia; 9m-epilepsy onset with febrile illness; normal development to 9m, then rapid regression following seizure onset; MRI brain diffuse global white matter loss (9m); cranial CT multiple scattered punctate calcifications in the periventricular, deep and subcortical white matter of both cerebral hemispheres (9m) 1 1 Johan den Dunnen
00296278 Fam2PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iraq - 2y2m - - - ? see paper; ..., deceased;; axial hypotonia; limb hypertonia; refractory infantile spasms, 12m-myoclonic and clonic seizures; mild developmental delay in first year of life, then regression; MRI brain cerebral atrophy and delayed myelination (12m); 1 1 Johan den Dunnen
00296279 Fam3PatII3 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy Sicily - - - - ? see paper; ..., axial hypotonia; limb hypertonia; refractory epilepsy with tonic-clonic seizures, onset with febrile illness at 12m; normal development to 12m, then rapid regression following seizure onset; MRI brain cortical/gray matter atrophy, marked reduction of white matter volume, delayed myelination, corpus callosum hypoplasia (19m); cranial CT sparse calcic and punctate-like hyperdensities in subcortical and periventricular areas (12m) 1 1 Johan den Dunnen
00296280 Fam4PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland;Germany;Bulgaria - - - - - ? see paper; ..., axial hypotonia; limb hypertonia; 10m-refractory epilepsy with myoclonic seizures and complex partial seizures; mild developmental delay to 12m, then rapid regression with worsening of seizures; MRI brain severe cerebral and moderate cerebellar atrophy, periventricular leukomalacia, mild hypomyelination (16m); cranial CT small calcifications near gray-white matter junction in parietal regions (16m) 2 1 Johan den Dunnen
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