All individuals with variants in gene ZNF462

26 entries on 1 page. Showing entries 1 - 26.
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00096028 Fam1PatVI1 PubMed: Weiss 2017, Journal: Weiss 2017 4-generation family, 5 affected (3F, 2M) F - Germany - - - - - ? see paper; ..., birth weight 3.7 kg (96%ile)/35.5 cm (96%ile); 8m height 70 cm (75%ile), OFC 47 cm (97%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; no epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum 1 5 Karin Weiss
00096029 Fam2PatII1 PubMed: Weiss 2017, Journal: Weiss 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., birth weight 3.2 kg (40%ile); height 91 cm (27%ile), OFC 50.5 cm (56%ile); developmental delay, autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum 1 1 Karin Weiss
00096030 Fam3PatII1 PubMed: Weiss 2017, Journal: Weiss 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., birth weight 3.2 kg (36%ile), height 32 cm (2%ile); height 82.5 cm (34%ile), OFC 46 cm (12%ile); developmental delay, autism spectrum disorder; hypotonia; lambdoid synostosis, metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum; transposition great arteries; silent aspirations on swallow exam 1 1 Karin Weiss
00100323 Fam6PatII1 PubMed: Weiss 2017, Journal: Weiss 2017 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., birth weight 3.88 kg (75%ile); height 133.5 cm (25%ile), OFC 51.5 cm (10%ile); developmental delay, autism spectrum disorder; hypotonia; facial asymmetry; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum; umbilical hernia repair 1 1 Karin Weiss
00447968 - - - ? yes China - - - - - WSKA Agenesis of corpus callosum with Interhemispheric cyst 1 3 Chunxiao Han
00447969 - - - M - China - - - - - WSKA developmental delay, Autistic behavior, EEG abnormality 1 1 Chunxiao Han
00447973 Fam1PatIV2 PubMed: Weiss 2017, Journal: Weiss 2017 sister F - Germany - - - - - ? see paper; ..., 6m-height 66 cm (50%ile), OFC 43 cm (50%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum 1 1 Johan den Dunnen
00447974 Fam1PatIII2 PubMed: Weiss 2017, Journal: Weiss 2017 father M - Germany - - - - - ? see paper; ..., height 168 cm (10%ile), OFC 57 cm (75%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; no down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; no short upturned nose, no bulbous tip; no marked cupid bow/wide philtrum 1 1 Johan den Dunnen
00447975 Fam4PatII1 PubMed: Weiss 2017, Journal: Weiss 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Norway - - - - - ? see paper; ..., birth weight 3.5 kg (25%ile), height 33 cm (25%ile); height 118 cm (97%ile), OFC 49 cm (10%ile); no developmental delay, no autism spectrum disorder; hypotonia; normal head shape; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum 1 1 Johan den Dunnen
00447976 Fam5PatII1 PubMed: Weiss 2017, {DOI:Weiss 2017:10.1038/ejhg.2017.86 2-generation family, 1 affected, unaffected non-carrier parents F - Sweden - - - - - ? see paper; ..., birth weight 2.9 kg (10%ile for 41 weeks), height 33 cm (third%ile); 17m-OFC 41.2 cm (<3%ile); developmental delay, autism spectrum disorder; no hypotonia; normal head shape; no ptosis; no down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; no short upturned nose, no bulbous tip; marked cupid bow/wide philtrum; ventricular septal defect; bilateral urethral reflux; hyperopia; increased appetite; high pain threshold 1 1 Johan den Dunnen
00447978 Pat1 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected parents M - - Asia;white - - - - NDD see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; low set ears; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; no congenital heart disease; fifth finger clinodactyly 1 1 Johan den Dunnen
00447979 Pat2 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD see paper; ..., delayed motor development, speech delay; autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; hypertelorism; normal MRI; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447980 Pat3 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - NDD see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; no ptosis; no down slanting palpebral fissures; no arched eyebrows; short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; inner ear malformation; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; bicuspid aoritc valve, ventricular septal defect; no limb anomalies 1 1 Johan den Dunnen
00447981 Pat4 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - Latin American - - - - NDD see paper; ..., speech delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; small ears, lowset ears; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447982 Pat5 PubMed: Kruszka 2019 2-generation family, 1 affected, heterozygous carrier father F - - - - - - - NDD see paper; ..., individualized education program, special education; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; no feeding issues; epicanthal folds; hearing loss; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447983 Pat6 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., early intervention for developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; horizontal crus helix; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; ventricular septal defect; prominent creases hands/feet 1 1 Johan den Dunnen
00447984 Pat7 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., cognitive impairment; autism spectrum disorder; no ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; prominent ears, ear pits; hearing loss; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447985 Pat8 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., speech delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; no hypertelorism; MRI brain agenesis corpus callosum; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447986 Pat9 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., global developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; lowset ears; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447987 Pat10 PubMed: Kruszka 2019 2-generation family, 1 affected M - - - - - - - NDD see paper; ..., speech delay, motor apraxia, individualized education program; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; mildly cupped ears; no craniosynostosis, no metopic ridging; no hypotonia; no hypertelorism; normal MRI; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447988 Pat11 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no developmental delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447989 Pat12 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., delayed motor development; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447990 Pat13 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; no arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; hypertelorism; no congenital heart disease; 5th finger clinodactyly 1 1 Johan den Dunnen
00447991 Pat14 PubMed: Kruszka 2019 2-generation family, 1 affected, unaffected non-carriermother F - - - - - - - NDD see paper; ..., cognitive impairment; no autism spectrum disorder; no ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; normal MRI; no congenital heart disease; no limb anomalies 1 1 Johan den Dunnen
00447992 patient PubMed: Ramocki 2003 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., pregnancy complicated by gestational diabetes; complete agenesis corpus callosum, bilateral periventricular nodular heterotopia, bilateral chorioretinal, iris colobomas; frontal bossing, left ptosis, dysplastic left ear, hemangiomas right forehead, left knee and shoulder and right vulva, bilateral leukocoria, hearing loss, ventricular septal defects, vesicoureteral reflux, hyperreflexia all four extremities 1 1 Johan den Dunnen
00447994 patient PubMed: Cosemans 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - NDD see paper; ..., 2y6m-developmental delay, trigonocephaly, shallow orbits, ptosis; 24y-prominent metopic ridge, underdeveloped supraorbital ridges, arched eyebrows, bilateral ptosis, inner epicanthal folds, large mouth, thin upper lip, broad/long philtrum, retrognathia, low-set ears, broad neck, low posterior hairline 1 1 Johan den Dunnen
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