All individuals with variants in gene DOHH

5 entries on 1 page. Showing entries 1 - 5.
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     
00415241 Fam1Pat1 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Korea, South (Republic);France - - - - - NDD birth 39w, weight 2,670 g (-1.36 SD), length 46 cm (-1.76 SD), OFC 34 cm (0 SD); neonatal hypotonia, temperature instability, poor feeding; 5y6m-height 95 cm (-3 SD), weight 11.4 kg (-3 SD), OFC 44.5 cm (-3.8 SD); not sitting; not walking; no speech; normal behavior; no seizures; severe hypotonia; MRI brain 3y-diffuse cerebral atrophy with overly visible furrows and ventricular dilation due to atrophy, cerebellar atrophy, thin corpus callosum; no cardiac anomalies; horizontal nystagmus, cortical visual impairment; no recurrent infections 2 1 Johan den Dunnen
00415242 Fam2Pat2 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia 15y - - - NDD 15y-died; birth 40w, weight 3,000 g (-1.12 SD), length 51 cm (-0.32 SD), ; no neonatal problems; 7y9m-height 114.8 cm (-1.8 SD), weight 16.8 kg (-2.56 SD), OFC 46.5 cm (-4.86 SD); 13m-sit; 3y6m-walk ; no speech; shy, stubborn, hyperactive; 5y/8y-2 occurences of tonic-clonic fever-associated seizures; hypotonia; MRI brain 4y-hypomyelination, cortical atrophy; incomplete atrioventricular canal, atrial septal defect type 2, ventricular septal defect, global progressive cardiac insufficiency with severe mitral-valve and aortic-valve insufficiency and severe cardiomegaly, which led to exitus letalis, mitral- and aortic-valve replacement and reconstruction was performed, 8y-ECG atrioventricular block; strabismus convergens alternans; recurrent infections 2 2 Johan den Dunnen
00415243 Fam2Pat3 PubMed: Ziegler 2022, Journal: Ziegler 2022 brother M - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia - - - - NDD birth 40w, weight 4,210 g (+1.05 SD), length 55 cm (+2 SD), ; no neonatal problems; 15y9m-height 146.5 cm (-3.28 SD), weight 29.2 kg (-4.42 SD), OFC 47.4 cm (-5.98 SD); 29m-sit; 4y9m-walk; no speech; happy demeanor; generalized epilepsy, 11y-drop attacks, 15y-myoclonus, 16y-fever-associated focal seizures then generalized seizures; hypotonia, truncal ataxia; MRI brain 2y-hypomyelination, corpus callosum hypoplasia; ECG atrioventricular block type 1, reduced ventricular function with EF 0.82, Holter ECG; monomorphic ventricular extasystolia, shortened PQ period under effort; strabismus convergens, 16y-ablatio retinae left with unilateral amaurosis; recurrent infections (pneumonia) 2 1 Johan den Dunnen
00415244 Fam3Pat4 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD 38w increased nuchal translucency, chylothorax; birth weight 3,290 g +(0.87 SD), length 49 cm (-0.44 SD), OFC 34 cm (-0.8 SD); neonatal hypotonia, poor feeding; 3,040 g (−0.8 SD)-height 128.5 (-2.5 SD), weight 23 kg (-2,5 SD), OFC 50 (-3SD); 20m-sit; 7y-walk; 7y-first words; happy demeanor; no seizures, 2y-EEG normal; hypotonia; MRI brain 5y-cortical atrophy, ventricular dilatation, thin corpus callosum; atrial septal defect, ostium secondum; horizontal nystagmus; no recurrent infections 2 1 Johan den Dunnen
00415245 Fam4Pat5 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - 25m - - - NDD 25m-died; 39w cardiopathy, birth weight 3,040 g (-0.8 SD), length 49.5 cm (-0.2 SD), OFC 34.1 cm (-0.8 SD); neonatal hypotonia; 22m-height 79.2 cm (-2.5 SD), weight 10 kg (-2 SD), OFC 43.6 cm (-3.5SD); not sitting; not walking; no speech; happy demeanor; generalized epilepsy with hyperextension of upper limbs; severe hypotonia; MRI brain 1y-cortical atrophy, enlarged ventricles, thin corpus callosum; Shone syndrome with aortic coarctation, bicuspid aortic valve, tricuspid-valve insufficiency, atrial septal defect, ventricular septal defect; nystagmus, strabismus, severe myopia; recurrent infections, 25m-died from pneumonia 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.