All individuals with variants in gene PRKG2

6 entries on 1 page. Showing entries 1 - 6.
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00396708 Pat1 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Morocco - - - - - AMD see paper; ..., severe short stature, adult height 130cm (Est); acromesomelia; bowed forearm; brachydactyly; broad hypoplasia hand phalanges; hyperlordosis; no talipes equinovarus; normal toes; no nail aplasia/hypoplasia; no facial dysmorphism; radiology normal skull, short pedicles, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees 1 1 Johan den Dunnen
00396709 Pat2 PubMed: Díaz-Gonzalez 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - AMD see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees 1 1 Johan den Dunnen
00418528 Fam1PatIV3 PubMed: Pagnamenta 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes Pakistan - - - - - SMD birth weight 2700g; normal developmental milestones; <4y-normal groth/feeding; height 158.5 cm (-2.5 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, thoracic region; broad thumbs, short 4-5th metacarpels; no acromelia; flat feet; normal face; normal palate; platyspondyly; (widespread metaphyseal changes; delayed bone age; normal bone density 1 3 Johan den Dunnen
00418529 Fam1PatIV6 PubMed: Pagnamenta 2022 brother M yes Pakistan - - - - - OI, SMD , hypotonia; normal developmental milestones; poor feeder; height 140.8 cm (-4.9 SD); moderate rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, mid-thoracic; broad thumb; no acromelia; triangular face (when younger); multiple Wormian bones; normal palate; platyspondyly; metaphyseal changes; slender bones with thin cortices, mild bowing femur, small irregular femoral heads; multiple fractures (arm as infant, wrist aged 8y, wedge T6 vertebra), blue sclerae 1 1 Johan den Dunnen
00418530 Fam1PatIV7 PubMed: Pagnamenta 2022 brother M yes Pakistan - - - - - SMD normal developmental milestones; height 143.8 cm (-3.11 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; no acromelia; mild shortening toes; normal face; normal palate; mild platyspondyly; metaphyseal changes, broadened and irregular; normal bone density 1 1 Johan den Dunnen
00418531 Fam2PatV3 PubMed: Pagnamenta 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - PSACH no hypotonia; normal developmental milestones; normal groth/feeding; height 121 cm (-2.5 SD); rhizomelic shortening upper and lower extremities; OFC 56cm; no kyphosis; short, broad fingers; no acromelia; short broad toes; broad nasal bridge, thick eyebrows, synophrys, prominent chin; no cranial anomalies; normal palate; platyspondyly; metaphyseal changes; short metacarp and metatarsal, disostosis peripheral; 9y-no delayed bone age; constipation, umbilical hernia in the past (now normal), hypertrichosis 1 1 Johan den Dunnen
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