Individual #00207400

ID_report Patient 1
Reference PubMed: Akgün Doğan et al., 2018
Remarks Second child of the parents (first cousin marriage), born via cesarean delivery at term. Died due to aspiration pneumonia-related respiratory distress.
Gender M
Consanguinity yes
Country ? (unknown)
Population -
Age at death 00y18m (18 months)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPMRS4
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau


Phenotypes

hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10)) (HPMRS4;GPIBD10)   Add phenotype for this disease

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Owner     
0000155171 Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, cleft palate, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size), Postnatal microcephaly, Short stature, Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum, mild ventriculomegaly, frontoparietal atrophy), Dysphagia, CVS Anomalies (patent foramen ovale (PFO)), Extremity abnormalities (brittle/hypoplastic nails, thin/sparse hair), Others (inguinal hernia, intestinal malrotation, ear pit nystagmus), ALP levels (672-837 U/L). - - Familial, autosomal recessive 00y00m54d - 00y00m00d - - Philippe Campeau



Screenings


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Owner     
0000208437 DNA SEQ;SEQ-NG Peripheral blood WES, emulsion PCR PGAP3 1 Philippe Campeau



Variants

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Protein level     
17 Both (homozygous) +/. - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - Philippe Campeau PGAP3 - - - - - 5 NM_033419.3:c.507C>A - r.(?) p.(Tyr169*) - - - - - - - - - - - - - - - - - - -
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