All individuals with variants in gene THUMPD1

18 entries on 1 page. Showing entries 1 - 18.
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00301733 15DG1395 PubMed: Maddirevula 2019 - M - - - - - - - ? intellectual disability, dysmorphic features, hypertension and diabetes. He was delivered at term via SVD. Antenatal history was significant for polyhydramnios. Parents are first degree cousins with a similarly affected child. His physical examination showed relatively large skull, sparse hair, right eye exotropic strabismus, up-slanting of palpable fissures, as well as prognathism with mild limitation of jaw opening, hands with tapering fingers, generalized thickening of skin with scattered trunk ale acne. Ophthalmology examination showed right large angle esotropia with hypertropia, and restricted eye movements in all directions except medially. Neurologically he is oriented but with low tone voice and slow response, increased muscle tone of cogwheel type, and slow initiation of gait. 1 1 Johan den Dunnen
00407695 Fam1PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - - - - - - NDD see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 17m-walk; intellectual disability; no short stature; ophtalmological abnormality; no congenital heart defect; hearing impairment 1 2 Johan den Dunnen
00407696 Fam1PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M no - - - - - - NDD see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 2y-first words; 16m-walk; intellectual disability; febrile seizures; no short stature; ophtalmological abnormality; no congenital heart defect; hearing impairment 1 1 Johan den Dunnen
00407697 Fam2PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 24m-walk; intellectual disability; behavior abnormality; no febrile seizures; no short stature; ophtalmological abnormality 1 2 Johan den Dunnen
00407698 Fam2PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - NDD see paper; ..., developmental delay; speech delayed sentences; intellectual disability; behavior abnormality; no febrile seizures; ophtalmological abnormality; Rahman syndrome 1 1 Johan den Dunnen
00407699 Fam3PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., developmental delay; microcephaly; speech delayed sentences; 1y-first words; 18m-walk; intellectual disability; behavior abnormality; febrile seizures; MRI brain normal; short stature; ophtalmological abnormality 1 1 Johan den Dunnen
00407700 Fam4PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., developmental delay; microcephaly; MRI brain abnormal; ophtalmological abnormality; congenital heart defect 1 1 Johan den Dunnen
00407701 Fam5PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., developmental delay; no microcephaly; speech delayed sentences; no speech; 36m-walk; intellectual disability; behavior abnormality; no febrile seizures; MRI brain normal; no short stature; ophtalmological abnormality 1 1 Johan den Dunnen
00407702 Fam6PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - NDD see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 2y-first words; 18m-walk; intellectual disability; behavior abnormality; no febrile seizures; MRI brain normal; no short stature; ophtalmological abnormality; hearing impairment 2 1 Johan den Dunnen
00407703 Fam7PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ..., developmental delay; microcephaly; speech delayed sentences; 2y-first words; 36m-walk; intellectual disability; behavior abnormality; febrile seizures; MRI brain normal; short stature; ophtalmological abnormality; no hearing impairment 1 3 Johan den Dunnen
00407704 Fam7PatII2 PubMed: Broly 2022, Journal: Broly 2022 sister F yes - - - - - - NDD see paper; ..., developmental delay; no microcephaly; intellectual disability; behavior abnormality; febrile seizures; no short stature; ophtalmological abnormality; hearing impairment 1 1 Johan den Dunnen
00407705 Fam7PatII3 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - NDD see paper; ..., intellectual disability; febrile seizures; ophtalmological abnormality; no hearing impairment 1 1 Johan den Dunnen
00407706 Fam8PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - NDD see paper; ..., developmental delay; microcephaly; speech delayed sentences; 19m-walk; intellectual disability; no behavior abnormality; no febrile seizures; MRI brain abnormal; short stature; ophtalmological abnormality; congenital heart defect; hearing impairment 1 2 Johan den Dunnen
00407707 Fam8PatII3 PubMed: Broly 2022, Journal: Broly 2022 sister F yes - - - - - - NDD see paper; ..., developmental delay; speech delayed sentences; 2y6m-first words; 15m-walk; intellectual disability; no behavior abnormality; febrile seizures; MRI brain abnormal; no short stature; no ophtalmological abnormality; hearing impairment 1 1 Johan den Dunnen
00407708 Fam9PatII1 PubMed: Broly 2022, Journal: Broly 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - NDD see paper; ... 1 3 Johan den Dunnen
00407709 Fam9PatII2 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00407710 Fam9PatII3 PubMed: Broly 2022, Journal: Broly 2022 brother M yes - - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00426197 10SS8000 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - ID Moderate to severe intellectual deficiency, behavioral abnormalities, facial dysmorphism, and ophthalmological abnormalities 1 1 Johan den Dunnen
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