All individuals with variants in gene NAA10

32 entries on 1 page. Showing entries 1 - 32.
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00016948 - PubMed: Popp 2015, Journal: Popp 2015 - F no Germany Europe >02y11m - - - ID postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities 1 1 Bernt Popp
00016949 - PubMed: Popp 2015, Journal: Popp 2015 - M no Switzerland - >05y11m - - - ID postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features 1 1 Bernt Popp
00039348 - - Developmental delay, facial dysmorphism, scoliosis, recurrent infections, long QT M no Ireland Europe - - - - ID - 1 1 Jillian Casey
00060301 - - - F no - - - - - - ID - 1 1 Bernt Popp
00060302 - - - F no - - - - - - ID - 1 1 Bernt Popp
00060303 - PubMed: Saunier 2016, Journal: Saunier 2016 - F no - - - - - - ID - 1 1 Bernt Popp
00060304 - - - F no - - - - - - ID - 1 1 Bernt Popp
00060305 - - - F - - - - - - - ID, OGDNS;NATD - 1 1 Bernt Popp
00060306 - - - F no - - - - - - ID - 1 1 Bernt Popp
00060307 - - - F no - - - - yes - ID, NACED - 1 1 Bernt Popp
00060308 - - - F - - - - - - - ID, NACED - 1 1 Bernt Popp
00060309 - - - F no - - - - - - ID, NACED - 1 1 Bernt Popp
00060310 - - - F no - - - - - - ID, NACED - 1 1 Bernt Popp
00060311 - - - F no - - - - - - ID, NACED - 1 1 Bernt Popp
00060312 - - - M no - - <00y01m - - - NACED affected sister with severe ID 1 1 Bernt Popp
00060313 - - - M no - - - - - - ID, MCOPS1 - 1 1 Bernt Popp
00060314 - - - M no - white 00y11m - - - NACED - 1 1 Bernt Popp
00063247 - PubMed: Forrester 2001 - M no - white - - - - ID, MCOPS1 - 1 1 Bernt Popp
00063248 - PubMed: Forrester 2001 - M no - white - - - - ID, MCOPS1 - 1 1 Bernt Popp
00064041 - Journal: McRae 2016 - F no - - - - - - ID - 1 1 Bernt Popp
00064042 - - - F no - - - - - - ID - 1 1 Bernt Popp
00064043 - Journal: McRae 2016 - F - - - - - - - ID - 1 1 Bernt Popp
00064619 - Journal: McRae 2016 - F no - - - - - - ID - 1 1 Bernt Popp
00064620 - Journal: McRae 2016 - F no - - - - - - ID - 1 1 Bernt Popp
00103074 BH5665_1/_4 PubMed: Eldomery 2017 2 affected brothers M ? - - - - - - MRT hypertrophic cardiomyopathy, developmental delay 1 2 Bernt Popp
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00207955 - - - F - Germany - - - - - - HP:0000957 (Cafe-au-lait spot); HP:0010677 (Enuresis nocturna); HP:0001250 (Seizures); HP:0012758 (Neurodevelopmental delay); HP:0001288 (Gait disturbance); HP:0011443 (Abnormality of coordination); HP:0002650 (Scoliosis) 1 1 Andreas Laner
00226142 FamPatIII1 PubMed: Shukla 2019, Journal: Shukla 2019 3-generation family, unaffected heterozygous carrier parents M - India - - - - - RPIAD see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity 1 1 Anju Shukla
00391874 108P - - F no Spain - - - - - EIEE5 - 1 1 Alejandro Brea-Fernández
00419509 8012 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00438651 HSJ0338 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440354 Pat38;PED1342.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 - F - France - - - - - NDD microcephaly 1 1 Johan den Dunnen
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