All individuals with variants in gene TIAM1

8 entries on 1 page. Showing entries 1 - 8.
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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
00405810 Pat1a PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 4 affected (4M), monozygotis twins, unaffected heterozygous carrier parents/relatives M no - - - - - - NDD see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; hypothyroidism, Addison’s disease 1 4 Johan den Dunnen
00405811 Pat1b PubMed: Lu 2022, Journal: Lu 2022 monozygotic twin Pat1a M no - - - - - - NDD see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; impulsive, obsessive behavior; hypothyroidism 1 1 Johan den Dunnen
00405812 Pat2 PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 3 affected (F,2M), unaffected heterozygous carrier parents/relatives M yes - - - - - - NDD see paper; ..., developmental delay; delayed speech; seizures, complex febrile seizures (abnormal EEGs); MRI brain progressive macrocephaly (secondary to chronic subdural hematoma and extra-axial fluid); axial hypotonia, appendicular hypertonia; subclinical hypothyroidism; dysmorphic features; congenital heart defect (atrial and ventricular septal defects); undescended testes 1 3 Johan den Dunnen
00405813 Pat3 PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes - - - - - - NDD see paper; ..., developmental delay; severe intellectual disability; no speech; seizures; MRI brain diffuse cerebral atrophy, thin corpus callosum, hypomyelination, deep cortical sulcus; hypomagnesemia; poor growth (difficulty in gaining weight); undescended testis; hirsutism 1 3 Johan den Dunnen
00405814 Pat4 PubMed: Lu 2022, Journal: Lu 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - NDD see paper; ..., developmental delay; severe intellectual disability; severe delayed speech; severe seizures; MRI brain hypothalamic hamartoma 1 1 Johan den Dunnen
00436381 268802 - - F no Germany - - - - - ? Focal-onset seizure, Neurodevelopmental delay, Short stature, Delayed puberty, Anxiety, Bilateral tonic-clonic seizure, Intellectual disability, mild, Status epilepticus, EEG abnormality, Delayed speech and language development, Motor delay 2 1 Andreas Laner
00438618 HSC0091 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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