All individuals with variants in gene SPRED2

5 entries on 1 page. Showing entries 1 - 5.
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00385422 Fam1PatII1 PubMed: Motta 2021 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - NS height 145 cm (SD-2.41), weight 42 kg (SD-1.02), OFC 57 cm (SD+1.32); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; congenital heart defect, mild aortic insufficiency, mitral valve prolapse; hypertrophic cardiomyopathy, focal interventricular septum hypertrophy; pectus excavatum; hyperlaxity; cubitus valgus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; helix folding anomaly, dysmorphic ear lobe; no café-au-lait spots; no freckling; nevi; no lymphatic involvement; bleeding/easy bruising; lymphopenia; MRI brain mild left cerebral hemisphere enlargement 1 4 Johan den Dunnen
00385423 Fam1PatI1 PubMed: Motta 2021 - M yes Turkey - - - - - NS height 144 cm (SD-4.35), weight 56 kg (SD-1.29), OFC 56 cm (SD-1.00); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; no congenital heart defect; hypertrophic cardiomyopathy; pectus excavatum; no hyperlaxity; bitemporal narrowing; no hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; downward slanted palpebral fissures, prominent nasolabial folds, long philtrum; no café-au-lait spots; no freckling; no cryptorchidism; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; tiny hemangiomas 1 1 Johan den Dunnen
00385424 Fam2PatII1 PubMed: Motta 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - NS height 122.2 cm (SD-1.00), weight 22 kg (SD-1.09), OFC 51 cm (SD+0.86); mild developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia during infancy; congenital heart defect, pulmonary valve stenosis, pulmonary balloon valvuloplasty; small secundum ASD; hypertrophic cardiomyopathy, (asymmetrical hypertrophy interventricular septum; pectus carinatum superiorly and pectus excavatum inferiorly, wide and short shield chest; hyperlaxity; limited extension of elbows, cubitus valgus, winged shoulder blades, kyphosis, mild pes valgus and pes planus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; triangular coarse face, sparse eyebrows, sparse eyelashes, downward slanted palpebral fissures, epicanthus, nasolacrimal duct stenosis, prominent nasolabial sulci, pointed receding chin; no café-au-lait spots; no freckling; sparse and curly hair, sparse and thin eyebrows and eyelashes, scaly and dry skin, eczematous skin, loose and thick skin, deep palmar creases; bilateral cryptorchidism; no lymphatic involvement; partial FXII deficiency (0.248 activity); no hematological abnormalities; atopic skin features, nasolacrimal duct stenosis, exotropia, bone pain and myalgia; trans-fontanelle USG left lateral ventriculomegaly; renal USG bilateral grade 2 medullary nephrocalcinosis 1 1 Johan den Dunnen
00385425 Fam3PatII1 PubMed: Motta 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - NS height 136.5 cm (SD-1.50), weight 27.5 kg (SD-2.30), OFC 55 cm (SD+1.00); no developmental delay; intellectual disability; no language delay; attention deficit; no hypotonia; congenital heart defect, pulmonary valve stenosis; no hypertrophic cardiomyopathy; pectus excavatum; hyperlaxity; kyphosis, clinodactyly, abnormal toe position; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; high cranial vault, triangular and coarse face, downward slanted palpebral fissures, ptosis, prominent philtrum, large mouth, thick lips, micrognathia, high arched/narrow palate; no café-au-lait spots; no freckling; hyperhydrosis, deep palmar creases; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; transient splenomegaly that gradually disappeared between age 2.5 and 8.5 years, sigmoid dolichocolon 1 1 Johan den Dunnen
00446896 - PubMed: Onore 2023 - M likely Italy - - - - - NS - 1 1 Giulio Piluso
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