All individuals with variants in gene OLA1

15 entries on 1 page. Showing entries 1 - 15.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00475209 Fam1PatIV2 PubMed: AlAbdi 2026 4-generation family, 3 affected, unaffected heterozygous carrier parents (first cousin), positive family history F yes Saudi Arabia - - - - - NDD see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); crawling on hands at 23 months; speech delay; intellectual disabilit; hypotonia; seizures, resolved; joint hypermobility; no limb contractures; skin laxity; mild scoliosis; blue sclera; deep-set eyes, subtle strabismus, hypotelorism, prominent forehead, depressed nasal bridge, smooth philtrum; echo mild mitral regurgitation; MRI brain plagiocephaly and mild ventricular dilatation; mild strabismus, bronchial asthma, mild-moderate dysphagia 1 3 Johan den Dunnen
00475210 Fam1PatIV6 PubMed: AlAbdi 2026 relative F yes Saudi Arabia - - - - - NDD see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); 18m-sit; 3y-walk; speech delay; intellectual disabilit; hyperactivity, hypotonia, poor social skills, poor interactions on neurological evaluation; hypotonia; joint hypermobility; no limb contractures; skin laxity; blue sclera; crowded teeth, flat feet, genu recurvatum, features of connective tissue disorder ; MRI brain parieto-occipital subgaleal hematoma with tiny foci faintly right signal intensity, no evidence of bleeding; X-ray showed increased first metatarsal-proximal phalangeal angle bilaterally; repaired umbilical hernia 1 1 Johan den Dunnen
00475211 Fam1PatIV3 PubMed: AlAbdi 2026 relative M yes Saudi Arabia - - - - - NDD see paper; ..., prenatal unremarkable; failure to thrive; motor delay; 12m-sit; 20m-walk; speech delay; intellectual disabilit; joint hypermobility; no limb contractures; mild scoliosis; crowded teeth 1 1 Johan den Dunnen
00475212 Fam2PatV1 PubMed: AlAbdi 2026 4-generation family, 3 affected, unaffected heterozygous carrier parents (first cousin), positive family history F yes Saudi Arabia - - - - - NDD see paper; ..., speech delay, dysarthria ; intellectual disabilit; severe attention deficit hyperactive disorder; mild generalized dystonia; febrile seizures; no limb contractures; kyphoscoliosis; long face, prominent eyes, long forehead; 15y-MRI brain mostly unremarkable with minor inflammatory changes present in paranasal sinuses; 16y-MRI spine severe thoracic dextroscoliosis without significant central canal narrowing or spinal cord abnormalities 1 2 Johan den Dunnen
00475213 Fam2PatV2 PubMed: AlAbdi 2026 brother M yes Saudi Arabia - - - - - NDD see paper; ..., prenatal unremarkable; motor delay; speech delay; intellectual disabilit; severe attention deficit hyperactive disorder; no seizures; joint hypermobility; limb contractures; skin laxity; scoliosis, S/P fixation; elongated face, prominent occiput, prominent forehead, proptotic eyes, arching eyebrows, low-set small ears, prominent incisors arachnodactyly; MRI brain vermal hypoplasia; severe scoliosis with Cobb angle around 47-54 degree 1 1 Johan den Dunnen
00475214 Fam3PatIV8 PubMed: AlAbdi 2026 3-generation family, 1 affected, unaffected heterozygous carrier parents, positive family history F no Portugal - - - - - NDD see paper; ..., prenatal suspected craniosynostosis; motor delay; hypotonia (infancy); 11m-sit; 4y6m-walk; speech delay; intellectual disabilit; stereotypical movements, intolerance to frustration; seizures; joint hypermobility; no limb contractures; hypotelorism, upstlanted palpebral fissures, thin eyebrows, tall forehead; echo normal; 1y-MRI brain moderate hypotelorism, broad appearance eyeballs (symmetrical), horizontalization middle cerebellar peduncles, no vermian anomaly; craniosynostosis, strabismus, recurrent upper airway infections; functional heart murmur 1 1 Johan den Dunnen
00475215 Fam4PatVI3 PubMed: AlAbdi 2026 5-generation family, 2 affected, unaffected heterozygous carrier parents (first cousin), positive family history F yes Turkey - - - - - NDD see paper; ..., birth at term, caesarean section (history of caeserian section in earlier pregnancies); failure to thrive; motor delay; hypotonia (infancy); 12m-sit; 3y-walk; speech delay; intellectual disabilit; aggression; hypotonia; no seizures; joint hypermobility; no limb contractures; no scoliosis; triangular face, synophrys, proptosis, ptosis, midface hypoplasia, prominent ears, thick lower lip, microstomy, high palate, pectus excavatum, prominent umbilicus, single palmar crease; atrial septal defect, ventricular septal defect, peripheral pulmonary stenosis; 5y_MRI brain norma;; operated umbilical hernia; atrial septal defect, ventricular septal defect, peripheral pulmonary stenosis; hypothyroidism 1 2 Johan den Dunnen
00475216 Fam4PatV7 PubMed: AlAbdi 2026 paternal uncle M yes Turkey - - - - - NDD see paper; ..., failure to thrive; failure to thrive; motor delay; hypotonia (infancy); sit delayed; 15y-walk; speech delay; intellectual disabilit; aggression; hypotonia; 15y-seizure, generalized epilepsy; joint hypermobility; distal limb contractures, finger contractures, ulnar deviation, pes planovaldus; skin laxity; scoliosis; triangular face, medial eyebrow flare, proptosis, midface hypoplasia, prominent ears, thick lower lip, microstomy, high palate, open mouth, pectoral asymmetry, operated umbilical hernia, hyperemic plantar regions; operated umbilical hernia, malnutrition, cachexia, sleeping problems 1 1 Johan den Dunnen
00475217 Fam5PatIII4 PubMed: AlAbdi 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin), no family history F yes Turkey - - - - - NDD see paper; ..., 38w-caesarean section (breech presentation); failure to thrive; motor delay; hypotonia (infancy); 18m-sit; 3y6m-walk; speech delay; intellectual disabilit; hand biting, aggressive to siblings; hypotonia; no seizures; joint hypermobility; no limb contractures; no scoliosis; relative macrocephaly, anterior plagiocephaly, triangular face, synophrys, proptosis, midface hypoplasia, anteverted nose, short columella, thin upper lip, thick lower lip, downturned corners of mouth, microstomy, high palate, pectus carinatum; ECG normal; 2y-MRI brain ventriculomegaly, thin corpus callosum, deep sulci, brain atrophy; bilateral developmental hip dysplasia, serous otitis media, sleep apnea 1 1 Johan den Dunnen
00475218 Fam6PatIII1 PubMed: AlAbdi 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents (second cousin), positive family history F yes Yemen - - - - - NDD see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); 24m-sit; 2y6m-walk; speech delay; intellectual disabilit; hyperactivity, hypotonia, poor social skills, poor interactions on neurological evaluation, attention deficit hyperactive disorder; hypotonia; febrile seizures; joint hypermobility; no limb contractures; skin laxity; upslanting palpebral fissures, bilateral 5th finger clinodactyly, flat feet, genu recurvatum, hemangioma on right upper quadrant abdomen, features suggestive of connective tissue disorder; 7m-MRI brain unremarkable; sleep apnea, gastroesophageal reflux (G-tube) 1 1 Johan den Dunnen
00475219 Fam7PatIII1 PubMed: AlAbdi 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents, no family history F no Norway - - - - - NDD see paper; ..., prenatal unremarkable; motor delay; hypotonia (infancy); 16m-sit; 2y6m-walk; speech delay; intellectual disabilit; good social interaction with parents, difficulties with emotional regulation; hypotonia; short episodes eye-rolling over course of week; joint hypermobility; no limb contractures; no skin laxity; epicanthal folds, low anterior hairline, slight pectus excavatum; small ASD, 4y-normal on follow-up ; MRI brain gracile hippocampus which leads to bilaterally dilated temporal horns; EEG normal; bilateral myopia, reduced hearing, small ASD (hemodynamic significance), narrow auditory canal R-side 1 1 Johan den Dunnen
00475220 Fam8PatIV1 PubMed: AlAbdi 2026 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents (first cousin), positive family history F yes Saudi Arabia - - - - - NDD see paper; ..., premature delivery; motor delay; hypotonia (infancy); 12m-sit; 4y-walk; speech delay; intellectual disabilit; muscle tone; no seizures; joint hypermobility; no limb contractures; no skin laxity; no scoliosis; no blue sclera; microcephaly (OFC 45cm), high bossed forehead, thick bushy eye brows, long wide eye ; patent foramen ovale, lLeft ventricle false tendon; 4y-MRI brain unremarkable 1 2 Johan den Dunnen
00475221 Fam8PatIV2 PubMed: AlAbdi 2026 sister F yes Saudi Arabia - - - - - NDD see paper; ..., premature delivery, cesarean section (complications preterm premature rupture of membranes), placental abruption, oligohydramnios; motor delay; hypotonia (infancy); 6y-walk unsteady gait ; speech delay; intellectual disabilit; microcephaly, visual impairment ; muscle tone; no seizures; joint hypermobility; no limb contractures; no skin laxity; no scoliosis; no blue sclera; microcephay (OFC 46cm), partial ptosis, large auricles, high narrow palate; 7y-MRI brain unremarkable 1 1 Johan den Dunnen
00475222 Fam9PatIV2 PubMed: AlAbdi 2026 4-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin), positive family history M yes Saudi Arabia - - - - - NDD see paper; ..., full-term pregnancy, cesarean section; motor delay; hypotonia (infancy); sit delayed; 2y11m-walk; speech delay; intellectual disabilit; anguage delays; attention deficit hyperactive disorder; hypotonia; no seizures; joint hypermobility; no limb contractures; no skin laxity; scoliosis; no blue sclera; facial asymmetry, torticollis left side, depressed nasal bridge, minimal coarse facial features with nasal congestion, intact posterior angulated auricles, short neck, chest revealed retrosternal indrawing ; patent ductus arteriosus, atrial septal defect, ventricular septal defect ; 3y-MRI brain lobal volume loss with cerebellar inferior vermian hypoplasia with incidental cervical findings; umbilical hernia, skeletal deformities, progressive thoracic scoliosis, abnormal skull shape 1 1 Johan den Dunnen
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