All individuals with variants in gene THOC6

15 entries on 1 page. Showing entries 1 - 15.
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AscendingIndividual ID     
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00174387 - - - M - (Germany) - - - - - ? Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Ventricular septal defect (HP:0001629); Pierre-Robin sequence (HP:0000201); Immunodeficiency (HP:0002721) 1 1 IMGAG
00238974 Patient_1 - 2 affected male from non-consanguineous marriage; unaffected heterozygous carrier parents M no India South Asian - - - - BBIS global developmental delay (HP:0001263), Facial Dysmorphism (HP:0001999), Synophrys (HP:0000664), deep-set eyes (HP:0000490), short palpebral fissure (HP:0012745), epicanthic folds (HP:0000286), plagiocephaly (HP:0001357), Cryptorchidism (HP:0000028), Sprengel anomaly (HP:0000912), Failure to thrive (HP:0001508) 3 2 MedGenome_db
00239622 - PubMed: Casey 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, severe intellectual disability, renal anomalies, language delay, dental malocclusion and caries, delay in early fine and gross motor skills, no gynaecological issues, cardiac anomalies 3 1 Johan den Dunnen
00239623 Fam1 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, renal anomalies, language delay, dental malocclusion and caries 1 2 Johan den Dunnen
00239624 Fam2 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, renal anomalies, language delay, dental malocclusion and caries 1 2 Johan den Dunnen
00239625 FamPat1 PubMed: Anazi 2016 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - ID see paper; ..., low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, no renal anomalies, language delay, cardiac anomalies 1 1 Johan den Dunnen
00239626 - PubMed: Accogli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - BBIS see paper; ... 2 1 Johan den Dunnen
00239627 Pat1 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - European - - - - BBIS mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, flat philtrum, retrognathia, severe intellectual disability, speech delay, brain anomalies, no ventricular dilatation, corpus callosum dysgenesis, no cardiac anomalies, no renal anomalies, micropenis, hypospadias 3 1 Johan den Dunnen
00239628 Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - BBIS mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, no flat philtrum, retrognathia, dental problems (malocclusion/caries), severe intellectual disability, speech delay, brain anomalies, ventricular dilatation (hydrocephalus), corpus callosum dysgenesis, cardiac anomalies, no renal anomalies, no genitourinary anomalies 4 1 Johan den Dunnen
00303490 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) 2 1 Andreas Laner
00361488 11DG2322 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID syndromic; global developmental delay, dysmorphism, ASD, VSD and imperforate anus 1 1 Johan den Dunnen
00386485 - PubMed: Nair 2018 - - - Lebanon - - - - - NDD hydrocephalus; developmental delay; intellectual disability; abnormal gait; carse face, malformation of heart and great vessels; short stature; undescended testis; micropenis 1 1 Johan den Dunnen
00440458 PED2118.1 PubMed: Nambot 2018 - - - France - - - - - ? - 2 1 Johan den Dunnen
00467630 FamPat10 PubMed: Elmas 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - ? see paper; ..., neurological disorders; global developmental delay, severe learning disability, autistic behaviors, microcephaly, early closure of anterior fontanelle, lack of eye contact, criptorchidism, left equinovarus foot deformity; MRI normal; no cardiac anomalies 1 2 Johan den Dunnen
00467631 FamPat11 PubMed: Elmas 2019 brother M yes Turkey - - - - - ? see paper; ..., hydrocephalus fetus; neuromotor developmental delay, severe learning disability, autistic behaviors, microcephaly, seizure, lack of eye contact, criptorchidism; MRI hydrocephalus, thin corpus callosum; no cardiac anomalies 1 1 Johan den Dunnen
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