All individuals with variants in gene BPTF

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
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00106517 28942966-Pat1 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - yes - ID Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly 1 1 Bernt Popp
00106518 28942966-Pat2 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - yes - ID Severe Developmental delay/Intellectual disability, Speech/language delay Motor delay, Microcephaly, Bilateral occipital protuberances, long nasal bridge with mildly hypolastic alae nasi, Multiple lateral flaring of eyebrows, ; outward deviation of one eye, Pes planus, 5th digit clinodactyly, windswept 2nd toe with lateral deviation, broad short great toes dental caries; profound intellectual disability (HP:0002187); severe global developmental delay (HP:0011344); speech delay (HP:0000750) 1 1 Bernt Popp
00106519 28942966-Pat3 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - yes - ID mild Developmental delay/Intellectual disability, mild speech/language delay, Motor delay, Large helices of both ears (similar to father),; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); mild speech delay (HP:0000750) 1 1 Bernt Popp
00106520 28942966-Pat4 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - F no - Latino - - - - ID Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, Brain MRI: bilateral nonspecific multifocal white matter lesions; Prominent nose, Ocular hypertelorism, epicantal folds, up-slanting palpebral fissures, Advanced bone age; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Bernt Popp
00106521 28942966-Pat5 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - F no - Latino - - - - ID Developmental delay/Intellectual disability, Autistic spectrum disorder, Speech/language delay, Microcephaly, Mediofacial hypoplasia, Up-slanting palpebral fissures, hypertelorism, 5th digit clinodactyly; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Bernt Popp
00106522 28942966-Pat6 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - ID Developmental delay/Intellectual disability, Speech/language delay, Microcephaly, High palate, prominent nose and columella, thin upper lip, Slender fingers and toes,; bulbous halluces; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Bernt Popp
00106523 28942966-Pat7 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - ID Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, broad nasal tip, prominent gum line, Lack of subcutaneous fat, Peg like, disorganized teeth, Lateral flaring of eyebrows, prominent supraorbital ridges, short palpebral fissures, severe myopia and convergent squint, Wrinkly hands, flexed fingers, 5th finger clinodactyly, bulbous halluces, overlapping toes; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Bernt Popp
00106524 28942966-Pat8 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - ? ? - - - - - - ID Mild Intellectual disability, Speech/language delay, Motor delay; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); speech delay (HP:0000750) 1 1 Bernt Popp
00106525 28942966-Pat9 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - ID Moderate (IQ 54), aggression and distractedness, disturbed sleep rhythm and sleeping problems, Speech/language delay Motor delay, Hypotonia, Microcephaly,MRI at age 4 years 8 months: periventricular white matter lesions, Long nasal bridge, small mouth and micrognathia, Cataract in right eye, hyperopia, Sandals' gap of both feet; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); mild-moderate speech delay (HP:0000750) 1 1 Bernt Popp
00106526 28942966-Pat10 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - - - ID Developmental delay/Intellectual disability, Speech/language delay, Hypotonia, Microcephaly, Bilateral facial paresis, bilateral anotia; absence of external auditory canals bilaterally, complete opacification of both middle ears, Epicanthal folds, up-slanting palpebral fissures, left colobomatous (iris and disk) microphthalmia, slight inferior lens subluxation, astigmatism left, Right thumb and thenar hypoplasia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Bernt Popp
00385451 patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - CHTD see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism 2 1 Johan den Dunnen
00464072 - - - F - - (not applicable) white - - - - ID HP:0000252, HP:0004322, HP:0100543, HP:0000483 1 1 Marketa Wayhelova
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