Global Variome shared LOVD

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Phenotype #0000299777 Individual ID 00398647 Associated disease dysplasia, bone Diagnosis/Initial kyphomelic dysplasia Diagnosis/Definite - Phenotype details 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 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Toshiyuki Itai Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Toshiyuki Itai Date created 2022-04-06 23:49:02 +02:00 (CEST) Date last edited 2025-03-31 15:33:21 +02:00 (CEST)

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