All individuals with variants in gene ARMC9

16 entries on 1 page. Showing entries 1 - 16.
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00183058 23033978-Trio43 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00309525 UW132-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - JBTS see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; seizures; hysterectomy 2016 (heavy bleeding); worsening visual acuity 2 1 Johan den Dunnen
00309526 UW132-4 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - JBTS see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; lithium-induced hypo-thyroidism; L foot postaxial polydactyly 2 1 Johan den Dunnen
00309527 UW348-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Israel white - - - - JBTS see paper; ..., developmental disability; abnormal eye movements; retinal dystrophy; no seizures; abnormal ERG 1 1 Johan den Dunnen
00309528 UW116-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - JBTS see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no polydactyly; no coloboma; ptosis; seizures; G-tube 2 1 Johan den Dunnen
00309529 UW335-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia white - - - - JBTS see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures 2 1 Johan den Dunnen
00309530 UW335-4 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia white - - - - JBTS see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures; single heterotopia (left occipital horn) 2 1 Johan den Dunnen
00309531 UW349-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - JBTS see paper; ..., developmental disability; apnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures; micrognathia; high palate; bifid uvula; bilateral optic nerve hypoplasia; GH deficiency; micropenis; eyelid implants; possible hearing loss; borderline HSM 2 1 Johan den Dunnen
00309532 LR09-023 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - JBTS see paper; ..., developmental disability; tachypnea; no polydactyly; ptosis; no seizures; Dandy Walker malformation; ventriculo- and cysto-peritoneal shunts; non-ambulatory; 8y-no speech 2 1 Johan den Dunnen
00309533 SA1-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia Arab - - - - JBTS see paper; ..., developmental disability; transient neonatal apnea/tachypnea; abnormal eye movements; no kidney abnormality; no liver abnormality; no polydactyly; ptosis; no seizures; 1 1 Johan den Dunnen
00309534 SA2-3 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Saudi Arabia Arab - - - - JBTS see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; broad nasal bridge; thin upper lip; Y-shaped 2/3 toe syndactyly 1 1 Johan den Dunnen
00309535 SA2-4 PubMed: Van de Weghe 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia Arab - - - - JBTS see paper; ..., developmental disability; transient neonatal apnea/tachypnea; no abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures 1 1 Johan den Dunnen
00309536 family PubMed: Kar 2018 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M yes India - - - - - ? see paper; ..., mental retardation, ptosis, and polydactyly 1 3 Johan den Dunnen
00380403 Pat8 PubMed: Goodman 2021, Journal: Goodman 2021 - - - Netherlands - - - - - NDD global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; no muscle tone abnormalities; no movement/neurological disorder; no seizures; no microcephaly; MRI brain abnormalities 1 1 Johan den Dunnen
00451357 F022.1/2 Journal: Steyaert 2024 family, affected son/father M - - - - - - - SPG hereditary spastic paraplegia 1 2 Johan den Dunnen
00458712 patient PubMed: Azevedo 2024 - M - Brazil - - - - - RS1 see paper; ..., 9y-bilateral visual loss; mild-moderate impairment visual acuity; bilateral foveal schisis, normal a-wave, reduction b-wave amplitudes in dark- and light- adapted full-field electroretinograms, abnormal oscillatory potentials; diffuse amplitude reduction in multifocal electroretinogram arrays 1 1 Johan den Dunnen
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