All individuals with variants in gene PGM2L1

6 entries on 1 page. Showing entries 1 - 6.
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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) 4 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
00431330 Pat1 PubMed: Morova 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - NDD see paper; ..., global development delay; intellectual disability; 18m-sit, 34m-walk; single words (4–5) at 34 months; no meaningful contact fter status epilepticus and resuscitation; neurologic features; hypotonia; muscle weakness; seizures; pyramidal signs after status epilepticus and resuscitation; no ataxia; MRI dilation frontal interhemispheric cleft; over-folded helices, large earlobes, pronounced antitragus; long eyelashes, down-slanting palpebral fissures; high arched narrow palate; flat nasal bridge, broad bulbous nasal tip, long philtrum; thin upper lip; pointy chin; early caries; skin abnormalities; dry skin, keratosis pilaris; hypertrichosis back; exotropia; no hypermetropia; vision loss after status epilepticus and resuscitation; gastro-intestinal abnormalities; swallowing difficulties after status epilepticus and resuscitation; early obesity; normal extremities; normal joints; normal hands/feet 1 1 Johan den Dunnen
00431331 Pat2 PubMed: Morova 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada French-Canadian (Cajun) - - - - NDD see paper; ..., global development delay; intellectual disability; 10m-sit, 18m-walk; severe speech delay; severe pica and aggressive behavior; neurologic features; truncal hypotonia; muscle weakness; seizures; no pyramidal signs; ataxia; MRI unremarkable (MRS showed decreased NAA and mildly elevated lactic acid); prominent ears, large ear lobes, and over-folded helices; epicanthal folds, down-slanting palpebral fissures; high arched narrow palate; prominent nasal tip, flat nasal bridge, under-developed nasolabial fold; thin upper lip; no pointy chin; early caries; skin abnormalities; dry skin, keratosis pilaris; excessive arm hair growth; exotropia; no hypermetropia; normal vision; no gastro-intestinal abnormalities; no swallowing difficulties; early obesity; normal hands/feet; hypermobility; small hands/feet, short toes 2 1 Johan den Dunnen
00431332 Pat3(DECIPHER381996) PubMed: Morova 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Denmark Middle East - - - - NDD see paper; ..., global development delay; intellectual disability; 7y-sit/stand with support, no targeted hand activity; severe, no verbal language; normal behavior; neurologic features; shifting tonus, with hypertonia; no muscle weakness; no seizures; no pyramidal signs; no ataxia; MRI symmetric infra/supra tentorial parenchymal anomalies, signal changes lower cerebellar hemispheres, nucleus lentiformis and scattered on the verge between cortex white matter; large earlobes; normal eyes; high arched narrow palate; prominent nose, flat philtrum; no thin upper lip; pointy chin; normal teeth; skin abnormalities; dry skin, keratosis pilaris; normal hair growth; exotropia; hypermetropia; normal vision; no gastro-intestinal abnormalities; no swallowing difficulties; no obesity; normal extremities; normal joints; normal hands/feet 1 1 Johan den Dunnen
00431333 Pat4 PubMed: Morova 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Pakistan - - - - - NDD see paper; ..., global development delay; 8m-sit,308m-walk; 30 months babbling, no speech; normal behavior; neurologic features; hypotonia; no muscle weakness; seizures; no pyramidal signs; ataxia; unremarkable; prominent ears; normal eyes; no high arched narrow palate; normal nose; no thin upper lip; no pointy chin; normal teeth; skin abnormalities; dry skin, eczema; normal hair growth; exotropia; no hypermetropia; normal vision; gastro-intestinal abnormalities; some feeding difficulties; early obesity; abnormalities extremities; hypermobility; deep palmar creases 1 1 Johan den Dunnen
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