Disease #06887 (dysplasia, bone (dysplasia, bone))

Official abbreviation dysplasia, bone
Name dysplasia, bone
OMIM ID -
Inheritance -
Individuals reported having this disease 36
Phenotype entries for this disease 36
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-27 10:53:47 +01:00 (CET)
Date last edited N/A


Individuals

36 entries on 1 page. Showing entries 1 - 36.
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00397594 Tab2-Pat1 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397595 Tab2-Pat2 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397596 Tab2-Pat3 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397597 Tab2-Pat4 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397598 Tab2-Pat5 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397599 Tab2-Pat6 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397600 Tab2-Pat7 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397601 Tab2-Pat8 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397602 Tab2-Pat9 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397603 Tab3-Pat1 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - PHEX 1 1 Johan den Dunnen
00397604 Tab3-Pat2 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397605 Tab3-Pat3 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397606 Tab3-Pat4 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397607 Tab3-Pat5 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397608 Tab3-Pat6 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397609 Tab3-Pat7 PubMed: Zhang 2015 - M - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397610 Tab3-Pat8 PubMed: Zhang 2015 - F - China - - - - - dysplasia, bone see paper; ... - COMP 1 1 Johan den Dunnen
00397611 Tab4-Pat1 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRPV4 1 1 Johan den Dunnen
00397612 Tab4-Pat2 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRPV4 1 1 Johan den Dunnen
00397613 Tab4-Pat3 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRPV4 1 1 Johan den Dunnen
00397614 Tab4-Pat4 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRPV4 1 1 Johan den Dunnen
00397615 Tab4-Pat8 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - MATN3 1 1 Johan den Dunnen
00397616 Tab4-Pat9 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - COL11A1 1 1 Johan den Dunnen
00397617 Tab4-Pat10 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRAPPC2 1 1 Johan den Dunnen
00397618 Tab4-Pat11 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - ARSE 1 1 Johan den Dunnen
00397619 Tab4-Pat12 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - TRPS1 1 1 Johan den Dunnen
00397620 Tab4-Pat13 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - SMARCAL1 1 1 Johan den Dunnen
00397621 Tab4-Pat14 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - ENPP1 2 1 Johan den Dunnen
00397622 Tab4-Pat15 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - FBN1 1 1 Johan den Dunnen
00397623 Tab4-Pat16 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - FBN1 1 1 Johan den Dunnen
00397624 Tab4-Pat17 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - FBN1 1 1 Johan den Dunnen
00397625 Tab4-Pat18 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... - FBN1 1 1 Johan den Dunnen
00398645 Pat1 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., no intellectual disability; no developmental delay; no neurological symptoms; conductive hearing impairment, hyperopia; respiratory disorders in neonatal period; joint contracture knee/hip; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; cleft palate; intermittent esotopia; no brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; no platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis - KIF5B 1 1 Toshiyuki Itai
00398646 Pat2 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., no intellectual disability; no developmental delay; febrile seizures, epilepsy; velopharyngeal insufficiency, astigmatism; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; no bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; no micrognathia; no small mouth with thin upper lip; no cleft palate; no intermittent esotopia; narrow thorax; no hooked clavicles; no short, wavy ribs; no anteriorly cupped ribs; no platyspondyly; kyphoscoliosis; no large pedicles; iliac flaring; no horizontal acetabular roof; limbs humeral bowing, no radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; no postnatal osteoporosis - KIF5B 1 1 Toshiyuki Itai
00398647 Pat3 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; glossoptosis; respiratory disorders in neonatal period; no joint contracture; no talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, bone spur, metaphyseal broadening, no pterygia, stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis - KIF5B 1 1 Toshiyuki Itai
00398648 Pat4 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - dysplasia, bone see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; tracheomalacia; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; no anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis - KIF5B 1 1 Toshiyuki Itai
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