All individuals with variants in gene DHRSX

8 entries on 1 page. Showing entries 1 - 8.
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00334776 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 12 LOVD
00334777 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 11 LOVD
00334778 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 8 LOVD
00434876 CMC32 PubMed: Gostain 2020 - M - Canada - - - - - ? seizures, global developmental delay, hypotonia, sensorineural hearing loss 2 1 Johan den Dunnen
00457966 Fam1Pat1 PubMed: Wilson 2024 2-generation family, 1 affected, unaffected non carrier parents F - (Belgium) - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; no epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral hypoplasia cranial nerves V, VII and VIII; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; hepatosplenomegaly in infancy; obstipation; hypertrichosis arms and legs; severe apnea episodes; contractures elbows and knees 1 1 Johan den Dunnen
00457967 Fam2Pat2 PubMed: Wilson 2024 2-generation family, 1 affected, unaffected parents F - - - 11m - - - CDG see paper; ..., 11m-deceased; facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; bilateral sensorineural hearing loss, auditory evoked potentials inconclusive; MRI brain small corpus callosum; no ophthalmological anomalies; failure to thrive; gastrostomy tube feeding; cholestasis, hepatomegaly; ichthyosis; persistent ductus arteriosus 1 1 Johan den Dunnen
00457968 Fam3Pat3 PubMed: Wilson 2024 2-generation family, 2 affected brothers, unaffected non carrier parents M - Canada - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain mild thinning corpus callosum, bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; eczema; stridor; severe obstructive sleep apnea requiring BiPAP; scoliosis; knee contractures 2 2 Johan den Dunnen
00457969 Fam3Pat4 PubMed: Wilson 2024 brother M - Canada - - - - - CDG see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; corneal erosion right eye; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; no dermatological findings; stridor; respiratory insufficiency requiring BiPAP; scoliosis knee contractures 2 1 Johan den Dunnen
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