All individuals with variants in gene PIGY

5 entries on 1 page. Showing entries 1 - 5.
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00054658 - PubMed: Ilkovski 2015, Journal: Ilkovski 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Australia Caucasian 02y 0 - - ? see paper; born 32w, necrotizing enterocolitis, chronic lung disease, dysmorphic, brachyphalangy, 2–3 toe syndactyly, elbow/knee flexion contractures, severe bilateral hip dysplasia; 5m intractable seizure disorder with multifocal spike and slow wave activity on EEG followed by developmental regression; 2y died of respiratory infection; congenital cataracts, intermittent episodes abdominal distress, vomiting, growth failure normal OFC, normal growth; MRI brain normal in neonates, 9m loss of white matter and cerebral volume, ... 1 2 Johan den Dunnen
00054659 - PubMed: Ilkovski 2015, Journal: Ilkovski 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Australia - - 0 - - ? see paper; 25w gestation abnormal antenatal scans, enlarged echogenic kidneys/bowel, long-bone growth failure; born 28w due to polyhydramnios; dysmorphic features, brachyphalangy, proximal limb shortening, contractures, left hip dysplasia; bilateral inguinal hernias, bilateral dilatation renal collecting systems, markedly increased echogenicity renal parenchyma; 6w intractable seizures, development regressed; 5m mostly unresponsive, poor vision; 7m died secondary to aspiration; congenital cataracts, intermittent episodes abdominal distress, vomiting, growth failure normal OFC, normal growth; MRI brain normal in neonates, ... 1 1 Johan den Dunnen
00054660 - PubMed: Ilkovski 2015, Journal: Ilkovski 2015 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents/brother - yes Pakistan - >05y 0 - - ? see paper; uncomplicated pregnancy/delivery; 6w microcephaly, 5y OFC 46 cm (-3-4 SD); delayed developmental milestones, sat_support-15m, walk-3y, speech delayed (5y only short 2-3 word sentences), short-sighted, strabismus, behavioural difficulties (aggressive outbursts), no seizures, mild facial dysmorphism, long palpebral fissures, bulbous nose tip, wide mouth, no brachytelephalangy 2 2 Johan den Dunnen
00054661 - PubMed: Ilkovski 2015, Journal: Ilkovski 2015 2-generation family, 2 affecteds (brother/sister), unaffected heterozygous carrier parents/brother F yes Pakistan - >03y 0 - - ? see paper; born following uncomplicated pregnancy/de-livery; 2w-microcephaly (2y OFC 42.1 cm (−4-5SD)); delayed development, sat_support-18, not_walk-3y, speech delayed (3y 10-15 single word sentences), poor concentration, hyperactive, no seizures, mild facial dysmorphism, long palpebral fissures, bulbous nose tip, wide mouth, no brachytelephalangy 2 1 Johan den Dunnen
00054668 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - 2y 0 - - MDC infantile hypotonia, profound global delay, arthrogryposis, seizures; died at 2y; CPK mild elevation (323-554); histology dystrophic 1 1 Sandra Cooper
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