All individuals with variants in gene ALG13

17 entries on 1 page. Showing entries 1 - 17.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00019869 - PubMed: Gilissen 2014 - ? ? - - - - - - ID neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis. 1 1 Marianne Vos (LOVD-team)
00050426 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microhematuria, hypercalciuria, proportionate short stature, seizures, intellectual disability 1 1 Johan den Dunnen
00089215 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - EE early-onset epileptic encephalopathy 1 1 Johan den Dunnen
00116841 S_172:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116860 S_209:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116894 S_293:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116898 S_3:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116917 S_338:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116935 S_384:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116941 S_408:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117090 S_71:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00173222 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 5 Lucy Raymond
00314901 Trio94 PubMed: Zhu 2015 - M - United States - - - - - ? Non-verbal austism, intellectual disability, fatty liver, pancreatitis, obesity/overgrowth, Tourette syndrome, seizures. 1 1 Johan den Dunnen
00374187 S-4679 PubMed: Ganapathy 2019 - - - India - - - - - ? Refractory epilepsy, infantile spasms, atonic falls, secondary autism, developmental delay and hypotonia during infancy 1 1 Johan den Dunnen
00385104 patient PubMed: Gershlick 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres 1 1 Johan den Dunnen
00427798 Pat008 PubMed: Zhou 2018 family, 1 affected, unaffected carrier mother M - China - - - - - epilepsy intellectual disability; generalized tonic-clonic seizure, frequency 1-2/wk; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain nonspecific; remitted to antiepileptic drugs 1 1 Johan den Dunnen
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