All individuals with variants in gene ANTXR1

33 entries on 1 page. Showing entries 1 - 33.
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00471649 Pat1 PubMed: Stranecky 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Czech Republic - - - - - NDD see paper; ..., height SD-4, OFC SD-2; normal bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, no epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, no nystagmus, esotropia, shallow anterior chamber, bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia; no hyperextensible joints; no mild webbing between fingers; no facial nerve palsy 1 1 Johan den Dunnen
00471650 Pat2 PubMed: Stranecky 2013 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - NDD see paper; ..., height SD-2, OFC SD-2; delayed bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, nystagmus, esotropia, no shallow anterior chamber, no bilateral engorged tortuous retinal vessels, bilateral optic atrophy, abnormal visual-evoked potential; umbilical hernia ; hyperextensible joints; no mild webbing between fingers; facial nerve palsy; MRI brain bilateral high signal deep white matter at deep parietal/occipital region and around optic nerve 1 1 Johan den Dunnen
00471651 Pat3 PubMed: Stranecky 2013 6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - NDD see paper; ..., height SD-3.7, OFC SD+2; mild delayed bone age; plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), scalp pigmented with scars and papules, sparse eyebrows and eyelashes; megalocornea, no nystagmus, no esotropia, shallow anterior chamber, bilateral engorged tortuous retinal vessels, no bilateral optic atrophy, normal visual-evoked potential; umbilical hernia; no hyperextensible joints; mild webbing between fingers; no facial nerve palsy 1 3 Johan den Dunnen
00471652 Pat4 PubMed: Stranecky 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Sri Lanka - - - - - NDD see paper; ..., height SD-4, OFC SD+1; delayed bone age; no plagiocephaly, frontal bossing, broad forehead, enlarged persistent anterior fontanel, widely spaced eyes, epicantus, epressed nasal bridge, short nose, long philtrum, thick and anteverted nares, thick lower lip, micrognathia, pseudoanodontia; sparse scalp hair (alopecia), no scalp pigmented with scars and papules, sparse eyebrows and eyelashes; nystagmus, no esotropia, bilateral engorged tortuous retinal vessels, bilateral optic atrophy; no umbilical hernia; hyperextensible joints; no mild webbing between fingers; no facial nerve palsy 1 1 Johan den Dunnen
00471653 Fam1Pat1;FamHOU2001PatBAB5033 PubMed: Bozkurt 2013, PubMed: Bayram 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; glaucoma; no myelinated nerve fiber layer; keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; hepatomegaly 1 1 Johan den Dunnen
00471654 Fam2Pat2;FamHOU2034BAB5141 PubMed: Bozkurt 2013, PubMed: Bayram 2014 4-generation family, 3 affected (2 brothers/sister), unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; no glaucoma; myelinated nerve fiber layer; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; no hepatomegaly 1 3 Johan den Dunnen
00471655 Fam2Pat3FamHOU2034BAB5142 PubMed: Bozkurt 2013, PubMed: Bayram 2014 brother M yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; optic atrophy; no glaucoma; myelinated nerve fiber layer; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia ; breast hypoplasia, nipple hypoplasia; umblical hernia; no hepatomegaly 1 1 Johan den Dunnen
00471656 Fam2Pat4;FamHOU2034BAB5143 PubMed: Bozkurt 2013, PubMed: Bayram 2014 sister F yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; delayed closure anterior fontanel; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; glaucoma; no myelinated nerve fiber layer; keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia; breast hypoplasia, nipple hypoplasia; no umblical hernia; no hepatomegaly 1 1 Johan den Dunnen
00471657 FamPatIV6;FamHOU2085BAB5348 PubMed: Ilker 1999, PubMed: Bayram 2014 4-generation family, 3 affected (brother/sister/cousin) M yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; glaucoma; no keratopathy; depressed nasal bridge, short nose, anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia 1 3 Johan den Dunnen
00471658 FamPatIV6;FamHOU2085BAB5349 PubMed: Ilker 1999, PubMed: Bayram 2014 paternal cousin M yes Turkey - - - - - NDD see paper; ..., growth retardation; delayed bone age; alopecia; relative macrocephaly; frontal bossing; low set protruding ears, hypertelorism, thickened eyelids, sparse eyebrows, sparse eyelashes; no optic atrophy; glaucoma; keratopathy; depressed nasal bridge, no short nose, no anteverted nares, long philtrum, thick lips, full lips, pseudoanodontia, micrognathia 1 1 Johan den Dunnen
00471659 FamPatIV10 PubMed: Ilker 1999 sister F yes Turkey - - - - - NDD see paper; ..., typical facies, papilla edema, bossed forehead, sparse eyebrows, sparse eyelashes, white eyelashes, hypertelorism, prominent globes, swollen eyelids 1 1 Johan den Dunnen
00471660 patient PubMed: Benetti-Pinto 2016 patient F yes Brazil - - - - - NDD see paper; ..., menstrual irregularities; 14y-pubarche, thelarche; 15y-menarche; no diabetes, no hypertension, no endocrine disease; short stature, alopecia aerata, pseudoanodontia, epicanthic fold, hypertelorism, sparse eyebrows, sparse eyelashes, very protuberant lower lip; ocular anomalies glaucoma, mild ectropion, lagophthalmos, hypermetropy 1 1 Johan den Dunnen
00471661 FamPatII1 PubMed: Salas-Alanís 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Mexico - - - - - NDD see paper; ..., typical facies, saddle nose, thick eyelids, thick lips, dwarfism, hypotrichosis, strabismus, shallow orbits, protruding auricles, prominent supraorbital ridges, high forehead, bossed forehead, small face with dysplasia 1 2 Johan den Dunnen
00471662 FamPatII2 PubMed: Salas-Alanís 2016 brother M - Mexico - - - - - NDD see paper; ..., ttypical facies, saddle nose, thick eyelids, thick lips, dwarfism, hypotrichosis, strabismus, shallow orbits, protruding auricles, prominent supraorbital ridges, high forehead, bossed forehead, small face with dysplasia 1 1 Johan den Dunnen
00471663 FamPatV2 PubMed: Chattopadhyay 2017 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - NDD see paper; ..., growth retardation, height 1.07m; wide anterior fontanel, delayed closure of fontanel, frontal bossing, no micrognathia, protruding ears; optic atrophy; no glaucoma, no nystagmus, no keratoconus; depressed nasal bridge, thick full lips; pseudoanodontia; no breast hypoplasia, nipple hypoplasia; umbilical hernia; delayed bone age; prominent scalp veins; no scalp hair, alopecia, severe hypotrichosis 1 1 Johan den Dunnen
00471664 Fam1Pat1 PubMed: Abdel-Hamid 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −4 SD, weight −2.2 SD, OFC −4 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 1 Johan den Dunnen
00471665 Fam2Pat2; Pat3 PubMed: Abdel-Hamid 2019, PubMed: El-Moataz Bellah Ahmed 2024 4-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −2 SD, weight −4 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 2 Johan den Dunnen
00471666 Fam2Pat3 PubMed: Abdel-Hamid 2019 sister F yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −2.5 SD, weight −2.7 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 1 Johan den Dunnen
00471667 Fam3Pat4 PubMed: Abdel-Hamid 2019 4-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; unilateral glaucoma; no keratopathy; height −3.2 SD, weight −0.85 SD, OFC −3.21 SD; hepatomegaly; umblical hernia; joint hyperextensibility 1 2 Johan den Dunnen
00471668 Fam3Pat5 PubMed: Abdel-Hamid 2019 brother M yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; no dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; unilateral glaucoma; no keratopathy; height −4.66 SD, weight −2.78 SD, OFC −3.04 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 1 Johan den Dunnen
00471669 Fam4Pat6 PubMed: Abdel-Hamid 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; no craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; optic atrophy; bilateral glaucoma; no keratopathy; height −3.0 SD, weight −2.80 SD, OFC −0.38 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 1 Johan den Dunnen
00471670 Fam5Pat7 PubMed: Abdel-Hamid 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - NDD see paper; ..., alopecia, sparse hair; dilated scalp veins; delayed closure anterior fontanel; frontal bossing; broad forehead; hypertelorism; puffiness around eyelids; sparse eyebrows and eyelashes; depressed nasal bridge; short nose, anteverted nares; long philtrum; low set ears, protruding ears; craniosynostosis; thick full lips; everted lower lip; micrognathia; pseudoanodontia; thick alveolar ridges; megalocornea; papilledema; bilateral glaucoma; keratopathy; height −5.3 SD, weight −1 SD, OFC −2 SD; no hepatomegaly; umblical hernia; joint hyperextensibility 1 1 Johan den Dunnen
00471671 patient PubMed: Dinckan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., absence lower anterior teeth; 2d-surgery anal atresia; 1y6m-surgery ankyloglossia; 7y-mild brachycephaly, low hanging columella, hypoplastic alae nasi, retrognathia; 7y-height 123 cm (50-75th), weight 22 kg (25-50th), OFC 52 cm (25th); 10y-oligodontia (absence lower incisors/canines/two upper premolars/all four lower premolars) 1 1 Johan den Dunnen
00471672 FamPatII3 PubMed: Yildiz 2022 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., no craniosynostosis; alopecia; dilated scalp vens; frontal bossing; puffy eyelids; sparse eyebrows and eyelashes; optic atrophy or paleness; no glaucoma; no keratopathy; depressed nasal bridge; short nose; long philtrum; full lips; pseudoanodontia; micrognathia; no umbilical hernia; growth retardation; growth retardation; inguinal hernia 1 2 Johan den Dunnen
00471673 FamPatII5 PubMed: Yildiz 2022 sister F yes Turkey - - - - - NDD see paper; ..., no craniosynostosis; alopecia; dilated scalp vens; frontal bossing; puffy eyelids; sparse eyebrows and eyelashes; optic atrophy or paleness; no glaucoma; no keratopathy; depressed nasal bridge; short nose; long philtrum; full lips; pseudoanodontia; micrognathia; no umbilical hernia; growth retardation; growth retardation; no inguinal hernia 1 1 Johan den Dunnen
00471674 FamPatIII2 PubMed: Damagatla 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no India - - - - - NDD see paper; ..., flat nasal bridge, telecanthus, protruding tongue; buphthalmos, megalocornea, hypertelorism, no eyelashes 1 2 Johan den Dunnen
00471675 FamPatIII3 PubMed: Damagatla 2024 sister F no India - - - - - NDD see paper; ..., 8y-vision loss, eyes excess watering, severe pain both eyes; alopecia universalis, cranial dysmorphology, frontal bossing, coarse face, depressed nasal bridge, long philtrum, everted lower lip vermilion, wide open mouth, protruded tongue, anodontia; hypertelorism, buphthalomos, sparse eyelashes, axial proptosis, congenital total cataract right; repetitive behavior, laughing face (laughs continuously); short stature; hyperextensible skin; alopecia universalis 1 1 Johan den Dunnen
00471676 patient PubMed: Balakrishnan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - NDD see paper; ..., short stature, dysmorphism, sparse hair growth, no appropriate dentition; birth respiratory distress, macrocephaly, macrosomia; sagittal craniosynostosis, scaphocephaly, right club foot; reduced length all long bones; bilateral choroid plexus cysts; 3y9m-OFC 49.5 cms(-1.1 Z), height 82 cm (−4.5 Z), weight 12 kg (−2.2 Z); turri-macrocephaly, sparse hair growth, few coarse/dry/rough hair, mid-facial hypoplasia, sparse flared eyebrows, puffy eyelids, bilateral epicanthus, depressed nasal bridge, short/bulbous nose flattened alae, long smooth philtrum, open mouth appearance, protruding tongue, thick everted lips, sparse dentition, micrognathia, low set anteverted/large ears with, large ear lobules, excessive laxity skin, prominence of facial folds, saggy/lax cheeks 1 1 Johan den Dunnen
00471677 patient PubMed: Modafferi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy - - - - - NDD see paper; ..., typical facies;failure to thrive, short stature;;sparse dentition; alopecia or sparse hair growth; optic atrophy; no umbilical hernia; no glaucoma; preserved intellect/development; no prominent scalp veins; no progeroid features; no delayed bone age; excessive laxity skin; short upper limbs, short lower limbs; no reduced length all long bones; no RX bone dysplasia; no joint hyperextensibility; no increased corneal diameters; no keratopathy; no strabismus 1 1 Johan den Dunnen
00471678 FamPatIV1 PubMed: El-Moataz Bellah Ahmed 2024 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD see paper; ..., 15y-retained deciduous teeth; dysmorphic facies, thick lips, hypertelorism, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair, lose her hair in androgenic-like manner; optic atrophy 1 2 Johan den Dunnen
00471679 FamPatIV4 PubMed: El-Moataz Bellah Ahmed 2024 sister F yes Egypt - - - - - NDD see paper; ..., 8y-retained deciduous teeth; dysmorphic facies, mild puffiness eyelids, depressed nasal bridge, hyperextensibility joints, broad forehead, frontal bossing, sparse eyebrows, sparse hair; no optic atrophy 1 1 Johan den Dunnen
00471680 patient PubMed: Jinnin 2008 - - - United States - - - - - ? see paper; ... 1 1 Johan den Dunnen
00471681 patient PubMed: Smigiel 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother, unaffected non-carrier father F - Poland - - - - - GAPOS see paper; ..., birth C-section, uneventful pregnancy, weight 3650g (50th–85th), length 52cm (85th–97th), OFC 35cm (85th), disproportionate short stature (short upper/lower limbs), facial dysmorphic (macrocephaly, coarse face, saddle nose, wide nasal bridge); delayed closure anterior fontanelle, alopecia, pseudoanodontia; 4y-short stature, excessive hair growth on back, disproportion proximal location extremities, hypotonic joints, alopecia more intense, teeth eruption delay, oligodontia 2 1 Johan den Dunnen
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