All individuals with variants in gene PKDCC

11 entries on 1 page. Showing entries 1 - 11.
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00435461 patient - - F - - - - - - - RLSDF rhizomelia of the upper limbs, flat face, prominent forehead, and nasal planus 2 1 Lulu Yan
00435463 Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - RLSDF see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs 1 1 Johan den Dunnen
00435464 Pat2 PubMed: Sajan 2019 2-generation family, 1 affected, unaffected heterozygous parents ? - United States - - - - - RLSDF see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation 1 1 Johan den Dunnen
00435466 Fam1PatII1 PubMed: Pagnamenta 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins) F yes United Kingdom (Great Britain) Middle East - - - - skeletal dysplasia birth weight 2.3 kg; length 2-9th (but mid-parental height on 50th); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; normal developmental milestones; slightly broad halluces; prominent eyes, high/broad nasal bridge, mild hypertelorism, thick eyebrows, long lashes, subtly coarse facial appearance, wide neck, minor neck webbing, low posterior hairline; sloping shoulders; mild micrognathia; short humeri noted in skeletal survey, mild bilateral coxa valga deformity; no hearing loss; myopia (-2D), previous surgery for blocked lachrymal ducts 1 1 Johan den Dunnen
00435467 Fam2PatII1 PubMed: Pagnamenta 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) India - - - - skeletal dysplasia birth weight 3326 g; length 116.5 cm (9th), on growth hormone therapy (prior to GH treatment height centile was 3.5mm below 0.4th centile), OFC 53.3 cm (50th centile); Rhizomelia upper limbs; no hypotonia; delayed walking secondary to increased tone; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, left single palmar crease; normal feet; mild hypertelorism, epicanthic folds, long eyelashes, thin upper lip, smooth philtrum, pale capillary haemangioma on forehead; mild micrognathia, prominent metopic ridge; no platyspondyly; no metaphyseal changes; short humeri, lateral displacement of right patella; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; porencephalic cyst and associated increased tone, all four limbs, L>R; increased range of movement right elbow, left elbow is stiff, possibly dislocated, needs further assessment. undescended testes, mild neutropenia, hypoplastic pituitary gland on imaging and growth hormone deficiency; low TSH, teeth enamel pitting 1 2 Johan den Dunnen
00435468 Fam3PatII1 PubMed: Pagnamenta 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - - Hispanic - - - - skeletal dysplasia length 87 cm (0.39th, Z -2.66), OFC 47.5 cm (8.09th, Z 1.40); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; speech delay; no kyphosis/hyperlordosis; short fifth digit; short broad toes; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; widely spaced nipples 1 2 Johan den Dunnen
00435469 Fam3PatII2 PubMed: Pagnamenta 2023 sister F - - Hispanic - - - - skeletal dysplasia birth weight 2990 g; length 70 cm (0.11th, Z -3.07), OFC 46 cm (54th, Z 0.10); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; short fifth digit; short broad toes; thick, arched, eyebrows, a thin upper lip, long philtrum; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; hemagioma right breast 1 1 Johan den Dunnen
00435470 Fam4PatII2 PubMed: Pagnamenta 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Hispanic - - - - skeletal dysplasia length 42nd centile, OFC 32nd centile; Rhizomelic shortening of arms; proximally placed thumbs; normal feet; long facies with midface hypoplasia, high and towering forehead, hypertelomoric eyes with epicanthus, thin upper lip, long philtrum, scooped nosal bridge with broad root, flat tip and flared nostrils; no sloping shoulders; normal head shape, fontaneles closed, micrognathic chin; coarse hair, hyperextensible joints, narrow palate 2 1 Johan den Dunnen
00435471 Fam5PatII10 PubMed: Pagnamenta 2023 3-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) M yes Iran - - - - - skeletal dysplasia BMI 28.8 kg/m2; length 157 cm (below 5th centile), OFC 57 cm (>75th centile); Upper and lower limb rhizomelia; no hypotonia; delayed developmental milestones; no kyphosis/hyperlordosis; short thumbs, bilateral short fifth finger; sandal gap; prominent forehead, downslanting palpebral fissures and hypertelorism; sloping shoulders; macrocephaly; genu varum, patellofemoral joint dislocation, incomplete supination, chronic joint pain; laryngomalacia; branchial cleft defect; hearing impairment; no cardiovascular anomalies 1 1 Johan den Dunnen
00435472 Fam6PatII2 PubMed: Pagnamenta 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Hispanic - - - - skeletal dysplasia birth weight 2970 g (19th), length 48 cm (16th); BMI 17.1 kg/m2; length 112.6 cm (1st centile, Z -2.27), OFC 54 cm (91st centile, Z 1.36); Rhizomelic shortening and milder mesomelic shortening of the upper and lower extremities; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral clinodactyly and shortening of fifth fingers, short thumbs, prominent pads, hyperextensible fingers; slightly broad halluxes, vertical deep plantar crease; high and prominent forehead, nevus flammeus on forehead, thick eyebrows, long lashes, mild hypertelorism, short nose, broad/ and low nasal bridge, anteverted nares, low set ears, prominent antihelix, wide neck, flat face; sloping shoulders; macrocephaly, dolicocephaly; no platyspondyly; slightly widened metaphyses; short humeri, short clavicles, flat acetabulum, bilateral coxa valga deformity, prominent medial femoral condyles, bilateral shortening distal phalange 1st and 2nd fingers and medial phalange of 5th finger; no laryngomalacia; no branchial cleft defect; no hearing loss; no cardiovascular anomalies; myopia (+4.8D), pectus excavatum, periungual hyperpigmentation, tooth decay, enamel pitting 2 1 Johan den Dunnen
00435473 Fam7PatII5 PubMed: Pagnamenta 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parents (1st cousins) F yes Saudi Arabia Arab - - - - skeletal dysplasia birth weight 2.3 kg, length 47 cm , OFC 32cm; length 88 cm (5.5 percentile, Z-1.5), OFC 45.6 cm (21 percentile, Z -0.78); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; normal developmental milestones; no kyphosis/hyperlordosis; bilateral fifth finger clinodactyly, b/l single thumb crease; slightly broad halluces; prominent eyes, depressed nasal bridge, mild hypertelorism, flat occipit, B/L cupped ears, rotated, fleshy ear lobes. epicanthal folds, short upturned nose, long philtrum, mid face hypoplasia, elfin-like face; no sloping shoulders; mild micrognathia; no platyspondyly; short humeri noted in skeletal survey, mild bilateral coxa valga deformity, 11 ribs (B/L); no laryngomalacia; no branchial cleft defect; no hearing loss; atrial septal defect; inferior cerebellar vermal hypoplasia 1 3 Johan den Dunnen
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