All individuals with variants in gene SEPHS1

9 entries on 1 page. Showing entries 1 - 9.
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00449669 Pat1 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (eyes, cupped, asymmetric, low set, hypoplastic ears with bilateral preauricular pits, broad nasal root, ankyloglossia); no endocrine features; respiratory features; ophthalmologic features; no cardiac features; gastrointestinal features 1 1 Johan den Dunnen
00449670 Pat2 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; no intellectual disability; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (,ankyloglossia); endocrine features; no respiratory features; no ophthalmologic features; no cardiac features; no gastrointestinal features 1 1 Johan den Dunnen
00449671 Pat3 PubMed: Mullegama 2024, Journal: Mullegama 2024 patient, parents not available - - - - - - - - NDD see paper; ..., developmental delay; intellectual disability; hypotonia and/or muscle weakness; no MRI brain anomalies; other neurologic findings; no history of poor height growth; no history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (deep set eyes, dark and thick eyelashes, horizontal palpebral fissures, small, cupped ears, small widely spaced teeth); respiratory features; no ophthalmologic features; no cardiac features; gastrointestinal features 1 1 Johan den Dunnen
00449672 Pat4 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; no hypotonia and/or muscle weakness; no MRI brain anomalies; no other neurologic findings; history of poor height growth; history of poor weight gain; no feeding difficulties; dysmorphic craniofacial features (mildly dysplastic, thick helix, Stahl's ear, slightly prominent nose, mild bifid uvula); endocrine features; respiratory features; no cardiac features; gastrointestinal features 1 1 Johan den Dunnen
00449673 Pat5 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; intellectual disability; neurobehavioral diagnoses; hypotonia and/or muscle weakness; no MRI brain anomalies; other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (heavy eyebrows with lateral flare, small ears, poor development superior helix, prominent nasal bridge, nasal turbinate reduction, ankyloglossia, thin vermillion); endocrine features; respiratory features; ophthalmologic features; cardiac features; no gastrointestinal features 1 1 Johan den Dunnen
00449674 Pat6 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; possible intellectual disability; neurobehavioral diagnoses; hypotonia and/or muscle weakness; other neurologic findings; no history of poor height growth; no history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (long eyelashes, ptosis, low set, cupped ears, fleshy helices, overhanging columella, abnormal philtrum, thin lips); no respiratory features; ophthalmologic features; no gastrointestinal features 1 1 Johan den Dunnen
00449675 FamPat7 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 2 affected sibs, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., hypotonia and/or muscle weakness; no history of poor height growth; endocrine features; respiratory features; cardiac features 1 2 Johan den Dunnen
00449676 FamPat8 PubMed: Mullegama 2024, Journal: Mullegama 2024 sib - - - - - - - - NDD see paper; ..., developmental delay; intellectual disability; no MRI brain anomalies; no history of poor height growth; no history of poor weight gain; endocrine features; respiratory features; cardiac features 1 1 Johan den Dunnen
00449677 Pat9 PubMed: Mullegama 2024, Journal: Mullegama 2024 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - NDD see paper; ..., developmental delay; possible intellectual disability; no neurobehavioral diagnoses; hypotonia and/or muscle weakness; no MRI brain anomalies; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (mildly arched eyebrows with long eyelashes, entropion, bilateral ptosis requiring surgery, mildly bulbous nasal tip, ankyloglossia); no endocrine features; no respiratory features; ophthalmologic features; no cardiac features 1 1 Johan den Dunnen
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