All individuals with variants in gene RPS23

3 entries on 1 page. Showing entries 1 - 3.
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00060230 Ind1 Journal: Paolini 2017, PubMed: Alsop 2016, Journal: Alsop 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - ? low nasal bridge, epicanthic folds, long eyelashes, blue sclerea; arched eyebrows, right eyebrow 'different', open mouth, thick under lip, high arched palate; small skull (-2.5 SD infancy, -2.0 12y), flat skull on backside, webbed neck as infant, right ear deformed and lower placed, two extra front teeth in upper jaw (surgically removed) small lower jaw; pigmented, elastic skin, hairy underarms, low back hairline, course skin on legs and arms, thin brittle hair; Simian palmar crease, fetal fingerpads, short phalanges, most visible on thumb, small brittle nails; loose joints/hypotonia as baby, hearing loss right ear, eye sight cylindric dev(r-3,5 i-2) short stature at age 12 (-2.5 SD), disharmonic intellectual profile, non-verbal learning disability, right hip higher than left, autism spectrum disorder 1 1 Marc Pieterse
00100509 28257692-Ind2 PubMed: Paolini 2017, Journal: Paolini 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - ? low nasal bridge (as infant), epicanthic folds, long eyelashes, bushy eyebrows with synophrys, submucous cleft palate and bifid uvula (corrected with surgery), thin lips, periorbital fullness, round face as infant (as a baby face became less round); small skull (-2.5 SD 5y), flat skull on backside, right ear deformed and lower placed, mild low set ears, overlapping helix superior, normal teeth, permanent teeth more irregular placed than first teeth; normal skin/hair, thick hair, hairy underarms/legs less prominent than as baby, low back hairline; bilateral atypical simian palmar crease, fetal fingerpads, mild short fifth fingers, nails a bit broad, toe nails mildly concave; delayed motor development, bilateral conductive hearing loss (tubes, tonsils extirpated), now grossly normal hearing, normal vision, mild short stature, disharmonic intellectual profile, nonverbal > performal, intelligence in similar range as family members, Raynaud-like phenomena in hands/feet when cold, no intellectual disability, is communicative 1 1 Johan den Dunnen
00210925 30503522-PatDBA199 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - DBA - 1 1 Johan den Dunnen
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