All individuals with variants in gene TCEAL1

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
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00424054 Pat1 PubMed: Hijazi 2022 - M no United States white - - - - NDD maternal hemolysis, elevated liver enzymes, and low platelets; birth 37w, C-section; no postnatal complications; developmental delay (HP:0012758)/moderate intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); single words only, communication device and signs; hypotonia (HP:0001319); gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); possible mild foreshortening of corpus callosum; astigmatism (HP:0000483); nystagmus (HP:0000639); strabismus (HP:0000486); mild myopia (HP:0000545); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; abnormality of the immune system (HP:0002715), recurrent ear infections 1 1 Johan den Dunnen
00424055 Pat2 PubMed: Hijazi 2022 - M no United Kingdom (Great Britain) white;Europe - - - - NDD maternal pruritic urticarial papules and plaques of pregnancy; birth 41w, C-section; postnatal complications, hyperbilirubinemia; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); neurodevelopmental regression (HP:0002376) , lost single words; seizures (HP:0001250), (developed in early childhood); currently non-verbal; hypotonia (HP:0001319); gait disturbance (HP:0001288), non-ambulatory; behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); strabismus (HP:0000486), other dysmorphic features; hyperopia (HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; gastrointestinal abnormality (HP:0011024), GERD, constipation, G-tube; abnormality of the immune system (HP:0002715), recurrent chest infections (aspiration) 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
00424057 Pat4 PubMed: Hijazi 2022 - F - Netherlands white;Europe - - - - NDD no prenatal complications; birth 40w; difficulty feeding (short frenulum); developmental delay (HP:0012758)/moderate intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250), (one absence with apnea); single words only, max 30 words; hypotonia (HP:0001319); gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); delayed myelinization of terminal zones of lateral ventricles, slight diminishing of white matter parietooccipital; no astigmatism (-HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); iris coloboma (HP:0000612); broad forehead (HP:0000337); gastrointestinal abnormality (HP:0011024), constipation; abnormality of the immune system (HP:0002715), recurrent respiratory and ear infections; not toilet trained at age 7, hypermobile fingers 1 1 Johan den Dunnen
00424058 Pat5 PubMed: Hijazi 2022 - F no - white;China - - - - NDD no prenatal complications; birth 37w; postnatal complications, hyperbilirubinemia; developmental delay (HP:0012758)/mild-moderate intelletual disability (HP:0001249); neurodevelopmental regression (HP:0002376); no seizures (-HP:0001250); single words, short sentences; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); autism/autistic-like behavior (HP:0000717); abnormal myelination (HP:0012447); abnormal myelination for age (HP:0012447); astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; abnormality of the immune system (HP:0002715), oral allergy syndrome, recurrent infection; hypertriglyceridemia, microcytic anemia 1 1 Johan den Dunnen
00424059 Pat6 PubMed: Hijazi 2022 - F no Algeria - - - - - NDD no prenatal complications; birth 40w; no postnatal complications; developmental delay (HP:0012758)/severe intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); single words only, ∼10 words; hypotonia (HP:0001319); no gait disturbance (-HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); strabismus (HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; gastrointestinal abnormality (HP:0011024), regurgitation; no abnormality of the immune system (HP:0002715)- 1 1 Johan den Dunnen
00424060 Pat7 PubMed: Hijazi 2022 - M no - white;Europe - - - - NDD no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty 1 1 Johan den Dunnen
00424061 Pat8 PubMed: Hijazi 2022 - M no - white;Europe - - - - NDD no prenatal complications; birth at term; no postnatal complications; no developmental delay (-HP:0012758)/no intelletual disability (-HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); full sentences and normal vocabulary for age; hypertonia (HP:0001276), spasticity (HP:0001257), ankle clonus; gait disturbance (HP:0001288), toe walking; no behavioral abnormalities (-HP:0000708); no autism/autistic-like behavior (-HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; no astigmatism (-HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); no broad forehead (-HP:0000337); no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; urinary incontinence 1 1 Johan den Dunnen
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