All individuals with variants in gene SUZ12

17 entries on 1 page. Showing entries 1 - 17.
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00081830 - - - F no Japan Japanese - - - - - - 1 1 Eri Imagawa
00296446 EX0209 PubMed: Choufani 2020 - M - - - - - - - ? - 1 1 Johan den Dunnen
00296447 Pat3/EX0066 PubMed: Imagawa 2017 2-generation family, affected father/daughter, unaffected heterozygous carrier parents F - Japan - - - - - ? see paper; ..., overgrowth; macrocephaly, plagiocephaly (flat occiput); prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; moderate intellectual disability (DQ48); normal corpus callosum; brain third ventricle enlargede ; hypotonia; advanced bone age (3y5m at 18m); mild scoliosis <20degrees; large hands; large feet; finger camptodactyly or clinodactyly; flexion disorders of fingers, knee joints contracture (mild), short second and fourth toes (bilateral), broad metaphyses, atrophy of gastrocnemius muscles; no excessive loose skin; no pigmented nevi; Plantar skin defects, ingrown nails of halluces; umbilical hernias 1 2 Johan den Dunnen
00296448 Pat4/EX0067 PubMed: Imagawa 2017 father Pat3/EX0066 M - Japan - - - - - ? see paper; ... 1 1 Johan den Dunnen
00296449 Pat1/A1765 PubMed: Cyrus 2019 2-generation family, affected father/son M - Finland - - - - - ? see paper; ..., overgrowth; macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; flame‐like eyes; low or broad nasal bridge; no prominent chin/jaw; developmental delay; thin corpus callosum; hypotonia; no thoracic/chest abnormalities; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; Flat feet; excessive loose skin; no hypertrichosis; no pigmented nevi; Small toenails; no CVS abnormalities; Frequent infections; no umbilical hernias; cryptorchidism; Chorda penis 1 2 Johan den Dunnen
00296450 M/R728468(2) PubMed: Choufani 2020 - M - - - - - - - ? - 1 1 Johan den Dunnen
00296451 Pat3/HK5502 PubMed: Cyrus 2019 - M - China - - - - - ? see paper; ..., overgrowth; macrocephaly, mild plagiocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; no round face; hypertelorism; no downslanting palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; no developmental delay; no intellectual disability; normal corpus callosum; advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet (46 at 18y); no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; no cryptorchidism 1 1 Johan den Dunnen
00296452 Pat4/A1494-R PubMed: Cyrus 2019 - F - Portugal - - - - - ? see paper; ..., mild overgrowth; no macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face, triangular face; hypertelorism, telecanthus; downslanting palpebral fissures; low or broad nasal bridge; prominent chin crease; developmental delay; mild intellectual disability (IQ56); hypotonia; advanced bone age (5y9m at 4y); no thoracic/chest abnormalities; no scoliosis; large hands; large feet; finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis back and limbs; no pigmented nevi; no respiratory abnormalities; umbilical hernias 1 1 Johan den Dunnen
00296455 Fam1PatII3 PubMed: Imagawa 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Brazil - - - - - ? see paper; ..., overgrowth; macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; no intellectual disability; no hypotonia; advanced bone age(14y at 13y); toe camptodactyly or clinodactyly; cubitus valgus,; no excessive loose skin; pigmented nevi; pigmented nevi 1 1 Johan den Dunnen
00296456 Fam2PatII1 PubMed: Imagawa 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - ? see paper; ..., overgrowth; no macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; no hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; no developmental delay; no intellectual disability; no hypotonia; toe camptodactyly or clinodactyly; Bilateral short fifth toes; hypertrichosis; no pigmented nevi; Nail hypoplasia of fifth toes; umbilical hernias 1 1 Johan den Dunnen
00296458 Pat2 PubMed: Cyrus 2019 - M - Finland - - - - - ? see paper; ..., overgrowth; macrocephaly , brachycephaly; prominent forehead or increased bifrontal diameter (in childhood); prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; everted lower eyelid; low or broad nasal bridge; prominent chin/jaw; no developmental delay; no intellectual disability; advanced bone age; pectus excavatum; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism; 1 1 Johan den Dunnen
00296459 Pat5 PubMed: Cyrus 2019 - M - Canada China - - - - ? see paper; ..., overgrowth; m ild plagiocephaly, bitemporal narrowing; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; long palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability, autism; hypoplastic corpus callosum; brain third ventricle enlarged with high roof; hypotonia; no advanced bone age; mild pectus excavatum superiorly/carinatum inferiorly, with “barrel‐shaped” and asymmetrical chest; no scoliosis; finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; narrow and “rounded” shoulders; short clavicles; scapular winging; decreased muscle bulk, mildly hypermobile joints prominent digit pads on toes; no hypertrichosis (as toddler); pigmented nevi; Fine and sparse scalp hair, neonatal eczema; PDA, PFO; Aspiration of thin liquids, pneumonia; no cryptorchidism; Phimosis 1 1 Johan den Dunnen
00296460 Pat6 PubMed: Cyrus 2019 - M - United States - - - - - ? see paper; ..., mild overgrowth; relative macrocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; epicanthal folds; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability (IQ66); normal corpus callosum; polymicrogyria; hypotonia; narrowed nipples, bilateral rib flaring; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; Bilateral foot pronation, pes planus, mild hypermobility of joints; no hypertrichosis; no pigmented nevi; Atypically soft skin; no CVS abnormalities; Frequent infections; no umbilical hernias; no cryptorchidism; 1 1 Johan den Dunnen
00296461 Pat7 PubMed: Cyrus 2019 - F - United States - - - - - ? see paper; ..., no overgrowth; no macrocephaly, bitemporal narrowing; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; low or broad nasal bridge; prominent chin/jaw; developmental delay; borderline intellectual disability (IQ74); no thoracic/chest abnormalities; no scoliosis; no large hands; no large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Bilateral short fifth fingers; no excessive loose skin; no hypertrichosis; no pigmented nevi; no respiratory abnormalities; no umbilical hernias; Anteriorly placed anus 1 1 Johan den Dunnen
00296462 Pat8 PubMed: Cyrus 2019 - M - United States - - - - - ? see paper; ..., overgrowth; macrocephaly; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges, enlarged frontal sinuses; no round face; mild hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; no prominent chin/jaw; developmental delay; learning disabilities (IQ100); complete agenesis corpus callosum; no hypotonia; no advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet; finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism; Disjoined epididymides 1 1 Johan den Dunnen
00296463 Pat9 PubMed: Cyrus 2019 - M - United States - - - - - ? see paper; ..., overgrowth; macrocephaly, brachycephaly; prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; no round face; no hypertelorism; downslanting palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability, autism; normal corpus callosum; no hypotonia; advanced bone age (15y at 12y5m); no thoracic/chest abnormalities; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Bilateral short fourth fingers; no excessive loose skin; no hypertrichosis; no pigmented nevi; no respiratory abnormalities; no umbilical hernias; cryptorchidism; 1 1 Johan den Dunnen
00296464 Pat10 PubMed: Cyrus 2019 - F - United States - - - - - ? see paper; ..., no overgrowth; no macrocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; no round face; no hypertelorism; no downslanting palpebral fissures; esotropia/exotropia; low or broad nasal bridge; developmental delay; severe‐profound intellectual disability; normal corpus callosum; periventricular leucomalacia; hypotonia; no thoracic/chest abnormalities; no scoliosis; no large hands; no large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Pes planus, bilateral coxa valga deformity; no excessive loose skin; no hypertrichosis; no pigmented nevi; Mild persistent ashma; umbilical hernias; 1 1 Johan den Dunnen
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