All individuals with variants in gene RIPK4

18 entries on 1 page. Showing entries 1 - 18.
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00292998 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00292999 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00314711 FamPatV2 PubMed: Dincer 2021 5-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives - yes Turkey - - - - - BPS see paper; ..., 17w-pregnancy terminated, severe intrauterine developmental abnormalities 1 2 Bayram Toraman
00314734 Fam1PatVI3 PubMed: Kalay 2012 6-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - ? birth weight 2350 g; alopecia; ectropion, no lagophthalmos, keratitis; corneal ulcerations; colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; hypoplastic oral cavity, hypoplastic nasopharyngeal cavity; orolabial synechia (filiform bands between jaws); unilateral cleft lip, cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; arthrogryposis; clubfoot deformity; flexion contractures; popliteal pterygia, no axillary pterygia, inguinal pterygia; filiform bands between feet, filiform bands between feet and pelvic region; no anal stenosis, no atresia, no rectal polyps or skin tags; bicornuate-bicollis uterus; hypoplastic labia major; low set umbilicus; no inguinal hernia; hypoplasia metacarpals, hypoplasia phalanges; no hypoplasia iliac wing, hypoplasia pelvic bones; MRI cranium normal; abdominal and renal USG normal; asymmetric nipples, wide-set nipples; patent foramen ovale; ECG mitral regurgitation; no pulmonary hypoplasia 1 6 Johan den Dunnen
00314735 Fam1PatV12 PubMed: Kalay 2012 - F yes Turkey - - - - - ? birth weight 3050 g, height 37.4 cm; alopecia; ectropion, no lagophthalmos, keratitis; corneal ulcerations; no colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; hypoplastic oral cavity, hypoplastic nasopharyngeal cavity; orolabial synechia (filiform bands between jaws); no cleft lip, no cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; arthrogryposis; clubfoot deformity; flexion contractures; popliteal pterygia, no axillary pterygia, inguinal pterygia; filiform bands between feet, no filiform bands between feet and pelvic region; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no inguinal hernia; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing, hypoplasia pelvic bones, hypoplasia scapula; MRI cranium normal; abdominal and renal USG normal; no dry, scaly skin; asymmetric nipples, wide-set nipples; no cardiac murmur; ECG normal; no pulmonary hypoplasia; no mental retardation 1 1 Johan den Dunnen
00314736 Fam2PatIV1 PubMed: Kalay 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - 57d - - - ? 57d-deceased; birth weight 2200 g, height 35 cm; alopecia; ectropion, lagophthalmos, keratitis; corneal ulcerations; no ankyloblepharon, no blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; orolabial synechia (filiform bands between jaws); bilateral cleft lip, cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; no short neck; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; clubfoot deformity; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; no filiform bands between feet, filiform bands between feet and pelvic region; no anal stenosis, no atresia, no rectal polyps or skin tags; micropenis, hypoplastic scrotum; low set umbilicus; inguinal hernia; unilateral left radius aplasia; bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing; USG ectopic kidney; dry, scaly skin; no asymmetric nipples, wide-set nipples; no cardiac murmur; no pulmonary hypoplasia 1 1 Johan den Dunnen
00314737 Fam3PatIV1 PubMed: Kalay 2012 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - 3m15d - - - ? 3.5m-deceased; alopecia; no ectropion, no lagophthalmos; corneal ulcerations; colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; absent mouth border; no mouth opening; no cleft lip, no cleft palate; no low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no radius aplasia; no bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; dry, scaly skin; asymmetric nipples, wide-set nipples 1 1 Johan den Dunnen
00462239 patient PubMed: Mitchell 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - BPS see paper; ..., pregnancy multiple congenital abnormalities; 1w preterm fetal bradycardia; birth weight 2.95kg, OFC 34cm; alopecia totalis, sparse scalp hair, partial ankyloblepharon, oral synechia partial occlusion oral cavity, hypertelorism, cloudy corneas, absent thumbs, finger oligosyndactyly, hypoplastic genitalia, extensive popliteal pterygia, toe oligosyndactyly, multiple skin tags, unusual fibrous tethers between feet/suprapubic region 1 1 Johan den Dunnen
00462240 patient;Pat2 PubMed: Shanske 2004, PubMed: Mitchell 2012 2-generation family, 2 affected fetuses (F, M), unaffected parents F;M yes Gambia - - - - - BPS - 1 1 Johan den Dunnen
00462243 PPS2 PubMed: Leslie 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - PPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; no syndactyly; genital hypoplasia; sparse hair; lip pits 2 1 Johan den Dunnen
00462244 PPS3 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - PPS see paper; ..., orofacial clefting; pterygia; no ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; dysplastic nails; hypodontia; dramatic malformation of the toes 1 1 Johan den Dunnen
00462245 BPS1 PubMed: Leslie 2015 2-generation family, 1 affected/1 affected fetus, unaffected heterozygous carrier first-cousin parents F yes - - - - - - BPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; hypoplastic nails 1 1 Johan den Dunnen
00462246 BPS2 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - BPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; genital hypoplasia; sparse hair; lip pits; bilateral cleft lip/palate, lower lip pits, bands between jaws, bilateral club feet, popliteal pterygia, no eyelashes, no eyebrows, sparse scalp hair, brittle nails, absent/small toenails, III-IV-V syndactyly right foot, triangular overgrowth skin over nail first right toe 1 1 Johan den Dunnen
00462248 Pat1 PubMed: Busa 2017 2-generation family, affected fetus (17w), unaffected heterozygous carrier parents F yes Morocco - <00y00m00d - - - BPS see paper; ..., 17w-aborted fetus (facial cleft, omphalocele, fetal immobility, arthrogryposis); facial appearance Bartsocas-Papas syndrome (no eyelids, bilateral labio-maxillo palatal cleft, nasal hypoplasia, small ears attached to scalp), small omphalocele, multiple pterygia upper/lower limbs, syndactyly hands/feet, club feet, anal atresia, absence external genitalia male fetus 1 1 Johan den Dunnen
00462249 Pat2 PubMed: Busa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia - - - - - CHANDS see paper; ..., birth-38w, weight 2820g (20th centile), length 47cm (13th centile), OFC 34cm (41th centile), ankyloblepharon (required early surgery; ECG normal, ultrasound brain normal, normal retina; abdominal ultrasound unilateral ureteral dilatation; 1m-nail dysplasia, dry skin, bifid tongue, multiple oral frenula; 3y-deciduous teeth normal, hair curly, hair wooly, hair sparse; normal growth parameters; normal motor development, 13m-walk; slight speech delay,attended regular school 1 1 Johan den Dunnen
00462250 family 5-generation family, 3 affected (2f, M), unaffected heterozygous carrier parents/relatives PubMed: Gollasch 2015 F;M yes Kuwait - - - - - CHANDS see paper; ..., ankyloblepharon, sparse hair, curly hair, hypoplastic nails 1 3 Johan den Dunnen
00469289 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469290 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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