All individuals with variants in gene GRIA4

8 entries on 1 page. Showing entries 1 - 8.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 5 1 Yu Sun
00399242 Pat1 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - ID see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood 1 1 Johan den Dunnen
00399243 Pat2 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - ID see paper; ..., prenatal period unremarkable, birth 40w, weight 3,320 g (25P); neonatal irritability, stiffness; no congenital anomalies; failure to thrive, short stature, microcephaly; severe developmental delay; no speech; MRI brain bilateral symmetric extensive atrophy frontal lobes, mild frontal ventriculomegaly, thin corpus callosum ; social smile, interaction with caregivers; muscle severe spastic quadriplegia, hypertonia with contractures; not walking; 5w-onset intractable generalized seizures; prognathism, midface retrusion, short philtrum, large ears; EEG diffuse cerebral disturbance without electrographic correlates to seizures; bilateral hiatal hernias, gastresophageal reflux, feeding difficulties, apneas, recurrent respiratory infections in first year of life, strabismus, choreiform movements 1 1 Johan den Dunnen
00399244 Pat3 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - ID see paper; ..., prenatal period maternal pre-eclampsia, birth 34wweight 3,033 g (95P), length 47 cm (61P), OFC 34 cm (86P); neonatal hypertonia, nystagmus, increased startle reflex; no congenital anomalies; normal postnatal growth; severe developmental delay; no speech; MRI brain optic nerve hypoplasia; occasional response to voice; muscle spasticity; supported walking; 14m-onset seizure-like episodes; large ears; EEG generalized slowing, no epileptiform discharges 1 1 Johan den Dunnen
00399245 Pat4 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white - - - - ID see paper; ..., prenatal period unremarkable, birth 39wweight 3,450 g (47P), length 53 cm (68P), OFC 37 cm (90P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; moderate to severe developmental delay; no speech; MRI brain normal; 3y-hyperactivity, reduced attention span, aggressive behavior, reduced interaction with other children; 4y-non-verbal communication, ability to focus and play; muscle mild muscular hypotonia (neonatal); clumsy gait; 13m-onset febrile seizures; no craniofacial dysmorphism; EEG generalized spikes and waves during sleep; stereotypic hand movements 1 1 Johan den Dunnen
00399246 Pat5 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - ID see paper; ..., prenatal period unremarkable, birth 40wweight 4,150 g (95P), length 53 cm (72P), OFC 36 cm (80P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech single words, few two-word sentences; MRI brain normal; lack of distance toward adults, reduced interaction with other children, strong searching for physical contact, mood changes with aggressive behavior and attention deficits; muscle unremarkable; walking; no seizures; no craniofacial dysmorphism; EEG normal; hyporeflexia, simian crease on both hands 1 1 Johan den Dunnen
00432974 251198 - - F ? Pakistan - - - - - NEDSGA Agitation, Opisthotonus, Hypertonia, Hyperreflexia, Neurodevelopmental delay, Failure to thrive in infancy, Secundum atrial septal defect, Exaggerated startle response, Glutaric aciduria 1 1 Andreas Laner
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