All individuals with variants in gene SF1

17 entries on 1 page. Showing entries 1 - 17.
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00407356 RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
00466068 - - - F - - (not applicable) white - - - - NDD HP:0000098, HP:0000483, HP:0000486, HP:0000540, HP:0001256, HP:0001999, HP:0002474, HP:0002808, HP:0100710 1 1 Marketa Wayhelova
00467729 Pat1 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., mild developmental delay; 13m-walk; 2y-first words; speech few words; no autism spectrum disorder; hyperphagia, hypersomnia; 16m-1 seizure; bitemporal constriction, large eyebrows, epicanthus bilateral, facial hypertrichosis; normal extremities; postnatal growth retardation, 2y-growth curve inflection; constipation and diarrhea 1 1 Johan den Dunnen
00467730 Pat2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., mild intellectual developmental disorder; 18m-walk; 2.5y-first words; speaks with full sentences with lisp, ask questions, understanding difficulties; no autism spectrum disorder; autistic features in earlychildhood, evolving towards a normalization; no seizures; MRI brain plagiocephaly; plagiocephaly, earlobes upward facing, epicanthic folds, hypertelorism, dental malposition, inverted nipples; short fifht fingers, long toes and short fifht toe nails; postnatal growth retardation; scalp cutis aplasia congenita, cutis marmorata and facial telengiectasia, malposition of permanent teeth 1 1 Johan den Dunnen
00467731 Pat3 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., moderate developmental delay; 14m-walk; 4y-first words; speech few words, use of pictograms for 50 words; autism spectrum disorder; phobia of fans, poor eye contact; no seizures; high forehead, ogival palate and one cafe-au-lait spot; normal extremities; no postnatal growth retardation; structural enamel defects on all temporary second molars, requiring tooth extraction 1 1 Johan den Dunnen
00467732 Pat4 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., learning difficulties; 18m-walk; 18m-first words; limited language; autism spectrum disorder; no seizures; hypertelorism, thin upper lip; normal extremities; no postnatal growth retardation; lower limbs cutis marmorata, dental crowding  1 1 Johan den Dunnen
00467733 Pat5 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., moderate intellectual developmental disorder; 26m-walk; 3y-first words; limited expressive language; autism spectrum disorder; no seizures; prominent ears surgically pinned, strawberry birthmarks to face and neck and inverted nipple; large hands; postnatal growth retardation, GH-therapy; polyhydramnios during pregnancy, undescended small testes, obesity, insensitivity to pain  1 1 Johan den Dunnen
00467734 Pat6 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., langage delay, intellectual developmental disorder; 12m-walk; 2y-first words; speech fluently with articulation difficulties; autism spectrum disorder; seizures; right epicanthal fold, long face and posteriorly rotated ears; short toes with hypoplastic nails; no postnatal growth retardation; strabismus 1 1 Johan den Dunnen
00467735 Pat7 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., mild developmental delay; 17m-walk; after 2y-first words; speech 20-30 words, expressive and receptive speech delay, non-verbal cognitive development within lower normal range; no autism spectrum disorder; sometimes stubborn, still not toilet trained; no seizures; sparse scalp hair, broad forehead, triangular face, epicanthus, sparse eyebrows, widly spaced eyes, short nasal bridge, broad nasal tip, midface retrusion, deep and short philtrum, teneted upper vermilion, retrognathia, low-set ears, pectus excavatum; broad distal phalange, broad foot, sandal gap; postnatal growth retardation, 2y delayed bone age; atrial septum defect, strabismus, hyperopia 1 1 Johan den Dunnen
00467736 Pat8 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., global developmental delay; 12m-walk; 12-15m-first words regression; na; autism spectrum disorder; attention-deficit/hyperactivity disorder, spleep disturbance; no seizures; MRI brain normal; tall forehead with a high anterior hairline and deep set eyes; normal extremities; no postnatal growth retardation; conductive hearing loss, bilateral lamellar cataract, bifid uvula, cervicobrachial dystonia causing tremor, undescended left testis 1 1 Johan den Dunnen
00467737 Pat9 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., mild intellectual developmental disorder; 36m-walk; 4y-first words; severe phonological speech disorder, prononciation problems, receptives language skills better than expressive; autism spectrum disorder; no seizures; synophyrs, metopic prominence, low set ears, cupped ears, prominent ear lobes, wide spaced teeth, inverted nipples, pes planus, broad feet, shawl scrotum; unilateral transverse palmar crease; postnatal growth retardation; polyhydramnios during pregnancy, preterm delivery, metopic synostosis 1 1 Johan den Dunnen
00467738 Pat10 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., moderate intellectual developmental disorder; 16m-walk; 3y-first words; bisyllabism; autism spectrum disorder; limited interaction by interest; no seizures; MRI brain normal; triangular face, anteverted nares, detached ears; short fingers and toes with hypoplastic nails; postnatal growth retardation, 5y-GH-therapy; severe feeding difficulties, gastrostomy placed at 30 mo, surgical closure of atrial septum defect, mild refractive error 1 1 Johan den Dunnen
00467739 Pat11 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mild intellectual developmental disorder; 24m-walk; 3y-first words; speech words associations; no autism spectrum disorder; nocturnal awakenings; no seizures; long face, broad forehead, arched eyebrows, tented philtrum, exaggerated cupid's bow; brachydactyly, hypoplastic fingernails and toenails; no postnatal growth retardation; distal hyperlaxity, strabismus, oligodontia of primary teeth (upper lateral incisors) 1 1 Johan den Dunnen
00467740 Pat12 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language delay, global low cognitive function without intellectual developmental disorder; 18m-walk; speech delay, 3y-regression of acquisition, improvement, now fluent; no autism spectrum disorder; normal behavior; no seizures; MRI brain left frontal peri-natal ischemic sequels; ears posteriorly rotated, tip of the nose arched, nostrils very anteverted, small mouth; fetal padds; no postnatal growth retardation; generalized hyperlaxity, scoliosis  1 1 Johan den Dunnen
00467741 Pat13 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., langage delay; <18m-walk; 2y-first words; speech few words; no autism spectrum disorder; normal behavior; no seizures; MRI brain pineal cyst, white matter hypersignals; enophtalmia, prognathism; hypoplastic toenails; no postnatal growth retardation; feeding difficulties during infancy 1 1 Johan den Dunnen
00467742 Pat14 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - NDD see paper; ..., moderate intellectual developmental disorder; 12m-walk; 9y-first words; speech sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder, prior violent behavior; no seizures; narrow ears, mild synorphrys; normal extremities; no postnatal growth retardation; obesity during chilhood 1 1 Johan den Dunnen
00467743 Pat15 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mild developmental delay (IQ86, verbal comprehension index 75); 14m-walk; 1y-first words; speech severe articulation problems up to 3y, speaks in short sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder; 5y-onset focal seizures, EEG continuous spike, wave during slow wave sleep; MRI brain hypoplastic corpus callosum and incomplete inversion of the left hippocampus. Hemisfere asymetry (left smaller).; triangular face, anteverted nares, pointy chin, cubid bow lip, frontal bossing; short hands and tapering fingers; no postnatal growth retardation; 1y-unilateral exotropia (2y-surgery) 1 1 Johan den Dunnen
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