All individuals with variants in gene HAAO

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
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) 4 1 Yu Sun
00275555 FamA PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United Kingdom (Great Britain) Iraq - - - - ? vertebral segmentation defects; atrial septal defect; renal hypoplasia, vesicoureteral reflux; limb defects talipes; sensorineural hearing loss, Mondini defect; short stature, global developmental delay, intellectual disability, laryngeal web, laryngomalacia 1 1 Johan den Dunnen
00275556 FamB PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Kingdom (Great Britain) Lebanon - - - - ? vertebral segmentation defects; hypoplastic left heart; renal hypoplasia, dysplasia; no limb defects; sensorineural hearing loss on left side; palsy of left vocal cord 1 1 Johan den Dunnen
00424056 Pat3 PubMed: Hijazi 2022 - M no France white;Europe - - - - NDD no prenatal complications; birth at term; no postnatal complications; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), ataxic with support; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); astigmatism (HP:0000483), other dysmorphic features; no nystagmus (-HP:0000639); strabismus (HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), deep-set eyes, very bright blue eyes; gastrointestinal abnormality (HP:0011024), chewing difficulty, constipation; abnormality of the immune system (HP:0002715), recurrent ear infections; growth retardation (onset 5 y/o), no puberty onset, hyperlaxity 1 1 Johan den Dunnen
00436125 Fam3 PubMed: Szot 2021 2-generation family, 2 affected fetuses, unaffected heterozygous parents - - - - - - - - ? see paper; ..., L5 hemivertebra, scoliosis; hypoplastic left heart; absent left kidney, multicystic right kidney; abnormal hand (right hand 4-5 syndactyly, abnormal orientation of the hand, flexion contracture of the 3rd digit); small bladder 2 1 Johan den Dunnen
00436126 Fam2 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - ? see paper; ..., Shone syndrome with aortic coarctation; normal limbs; no renal anomalies; progressive intrauterine growth retardation 1 1 Johan den Dunnen
00436127 Fam1 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - ? see paper; ..., L2 hemivertebra; sacral vertebral anomalies; 11 pairs of ribs; Tetralogy of Fallot with complete atrioventricular canal and pulmonary stenosis; persistent LSVC and left pulmonary artery arising from the ductus arteriosus; clinodactyly of digits 2 and 5 with short middle phalanges on the right hand, clinodactyly of the 5th digit on the left hand, overlapping 1st and 2nd toes; mild facial dysmorphism (bitemporal narrowing, epicanthic folds and a flat nasal bridge, absent tragi of the ears) 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.