All individuals with variants in gene SCNM1

4 entries on 1 page. Showing entries 1 - 4.
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00417197 Fam1Pat1 PubMed: Iturrate 2022, Journal: Iturrate 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents (first cousins) F yes - - - - - - OFD weight 17 kg (-0.45 SD), height 103 cm (-1.12 SD), OFC 50 cm (-0.62 SD); lobulated with nodules; hypodontia (missing lower central incisors), excessive caries; narrow and high-arched; accessory oral frenula; dolichocephaly, frontal bossing; upslanted palpebral fissures; broad nasal bridge, thick alae nasi; protruding, cupped, low-set ears; narrow mouth; median notching of lower lip; retrognathia, horizontal chin crease; bilateral postaxial polydactyly with six fingers on the right and seven fingers on the left (operated); broad, medially deviated halluces, bilateral postaxial polydactyly with six toes; bilateral partial skin syndactyly of the toes; type A brachydactyly of the hands and feet; broad hands, interdigital webbing, single flexion crease in several fingers, broad feet; normal nails; MRI brain ectatic supratentorial ventricular system; no epilepsy; timely acquisition of motor and social skills, delayed speech, normal intellectual performance; mild shortening of forearms, mildly short of tibiae; normal echocardiogram; normal eye examination and fundoscopy; normal abdominal ultrasound, normal pelvic ultrasound 1 2 Johan den Dunnen
00417198 Fam1Pat2 PubMed: Iturrate 2022, Journal: Iturrate 2022 sister F yes - - - - - - OFD weight 11 kg (-0.49 SD), height 78 cm (-1.23 SD), OFC 46 cm (-0.53 SD); lobulated with nodules; hypodontia (missing lower lateral incisors); narrow and high-arched; accessory oral frenula; broad prominent forehead; hypertelorism, epicanthal folds, strabismus; broad nasal bridge, broad nasal tip; protruding, low-set ears, underfolded helices; downturned corners of the mouth; median notching of upper lip; retrognathia, horizontal chin crease; bilateral pre- and postaxial polydactyly with eight fingers; bilateral pre- and postaxial polydactyly with complete duplication of halluces, with seven toes on the right and eight toes on the left; bilateral partial skin syndactyly of the toes, complete skin syndactyly of digits six to eight on the left; type A brachydactyly of the hands and feet; broad hands, abnormal palmar creases, bilateral Y-shaped metacarpals, very broad feet; normal nails; ; no epilepsy; timely acquisition of motor and social skills; mild shortening of forearms, markedly short tibiae; patent ductus arteriosus, small atrial septal defect; normal eye examination and fundoscopy; normal abdominal ultrasound, normal pelvic ultrasound 1 1 Johan den Dunnen
00417199 Fam2Pat3 PubMed: Iturrate 2022, Journal: Iturrate 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins) F yes - - - - - - OFD weight 34.5 kg (+1.66 SD), height 126.5 cm (+0.41 SD), OFC 51 cm (-0.41 SD); lobulated with nodules; microdontia of upper central incisors; narrow and high arched; serrated and thick alveolar ridge, spoon shaped tongue; high forehead; hypertelorism, epicanthal folds, downslanted palpebral fissures, strabismus (corrected by age); broad nasal bridge, underdeveloped alae nasi, short columella, bifid nasal tip; bifid right ear lobe, low-set ears; narrow mouth, downturned corners of the mouth; thin vermilion of the upper and lower lip; mild retrognathia, horizontal chin crease; low posterior hairline; bilateral postaxial polydactyly with seven fingers on the right (with a shorter, more rudimentary fifth finger in between the well-developed fourth and sixth fingers), and six fingers on the left (a broad sixth finger low-inserted at a right angle to the ulnar side (operated); broad, medially deviated halluces with fused distal phalanges and bifid nails on the right, bilateral postaxial polydactyly (operated); bilateral partial skin syndactyly of the toes; type A brachydactyly of the hands and feet; clinodactyly of right fifth finger with single palmar crease and camptodactyly of left fifth finger, broad and flat feet, bilateral talipes partially corrected by casting; hypoplastic nails more prominent on the feet; MRI brain normal; no epilepsy; timely acquisition of motor skills, normal intellectual performance; short arm span and mild shortening of tibia; normal echocardiogram; normal vision; normal abdominal ultrasound, normal pelvic ultrasound; generalized thin skin with xerosis exacerbating in winter, more prominent over the feet (improved with age) 1 1 Johan den Dunnen
00417200 Fam3Pat4 PubMed: Iturrate 2022, Journal: Iturrate 2022 2 generation family, affected sister/fetus, unaffected heterozygous carrier parents (first cousins) F yes - - - - - - OFD weight 16.2 kg (+0.65 SD), height 92.4 cm (-1.38 SD), OFC 47 cm (-1.61 SD); tongue nodules; hypodontia (congenital absence of lower central and lateral incisors); soft palate cleft (operated); accessory oral frenula; high forehead; mild epicanthal folds; broad nasal bridge, mildly short nose with anteverted nares; small ear lobes, additional crus of the left antihelix; downturned corners of the mouth; median notching of upper lip; mild retrognathia, horizontal chin crease; bilateral postaxial type A polydactyly with six fingers (operated); broad, medially deviated halluces with broad first metatarsals and bifid and fused distal phalanges, left postaxial hexadactyly (operated); bilateral partial skin syndactyly of the toes; type A brachydactyly of the hands and brachydactyly of the feet; reduced palmar creases, bilateral fifth finger clinodactyly with single flexion crease; broad nails of halluces, small nails of the hands and the remaining digits of the feet; MRI brain normal; no epilepsy; timely acquisition of motor and social skills, delayed speech; short arm span 87 cm (-2.67 SD) with arm span to height ratio of 0.94, lower limbs not evaluated; normal echocardiogram; normal vision; normal abdominal ultrasound, hypoplastic labia minora 1 1 Johan den Dunnen
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