All individuals with variants in gene CWC27

15 entries on 1 page. Showing entries 1 - 15.
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00155291 28285769-Fam2PatII1 PubMed: Xu 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Spain - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), moderate intellectual disability (HP:0002342), psychomotor retardation, unspecific endocrinological dysfunction 1 2 Johan den Dunnen
00155292 28285769-Fam2PatII2 PubMed: Xu 2017 PatII2 F no Spain - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), moderate intellectual disability (HP:0002342), unspecific endocrinological dysfunction 1 1 Johan den Dunnen
00155293 28285769-Fam3PatII1 PubMed: Xu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China Han Chinese - - - - RPSKA no cranio-facial defects (-HP:0000234), no brachydactyly (-HP:0001156), no short stature (-HP:0004322), retinitis pigmentosa (HP:0008035), no neurological defects (-HP:0000707) 1 1 Johan den Dunnen
00155294 28285769-Fam4PatII3 PubMed: Xu 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Morocco - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), intellectual disability (HP:0001249), feeding difficulty, severe psychomotor retardation, alopecia, absent eyebrows and eyelashes, ichthyosis, multiple kidney cysts, ERG flat, altered visual evoked potential response 1 2 Johan den Dunnen
00155296 28285769-Fam4PatII4 PubMed: Xu 2017 PatII4 M yes Morocco - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), intellectual disability (HP:0001249), feeding difficulty, severe psychomotor retardation, cortical atrophy, ERG flat, altered visual evoked potential response, alopecia, absent eyebrows and eyelashes, ichthyosis, ectopic testis 1 1 Johan den Dunnen
00155297 28285769-Fam5PatII1 PubMed: Xu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), retinitis pigmentosa (HP:0008035), neonatal hypotonia, inguinal hernia, bladder cyst, heart murmur, intellectual disability (HP:0001249), 6y-speech delay, 2y-delay of walking, 2y-feeding difficulty, Arnold-Chiari malformation type 1 2 1 Johan den Dunnen
00155298 28285769-Fam6PatII1 PubMed: Xu 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents M no India - - - - - RPSKA cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), 2m-no retinitis pigmentosa (-HP:0008035), 1y7m-no neurological defects (-HP:0000707), bilateral superior vena cava, 2 large ventricular septal defects, horseshoe kidney 2 1 Johan den Dunnen
00155300 28285769-Fam7PatII1 PubMed: Xu 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents F no China Han Chinese - - - - RPSKA no cranio-facial defects (-HP:0000234), mild brachydactyly (HP:0001156), short stature (HP:0004322), Leber congenital amaurosis, no neurological defects (-HP:0000707) 2 1 Johan den Dunnen
00228271 - - - F yes Spain White 18y - - - RPSKA - 1 1 Alejandro Brea-Fernández
00395561 RP-0185 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease macular degeneration, optic atrophy, papilledema, rod-cone dystrophy, intellectual disability, macrocephaly, lumbar hyperlordosis, pectus excavatum, short neck, short stature, abnormality of the philtrum, nasal bridge and incisors, low posterior hairline, generalized hyperkeratosis, hirsutism, hyperpigmentation of the skin 1 1 LOVD
00409222 28285769-Fam1PatI4 PubMed: Xu 2017 2-generation family, affected two brothers, unaffected three brothers heterozygous carrier parents M yes - Yemenite - - - - RPSKA craniofacial defects ; neurological defects: speech delay; delay of walking (3y); brachydactyly; ocular manifestations: retinitis pigmentosa; growth: short stature; additional abnormalities: cafe-au-lait spots, hallux valgus both sides, flat feeet 1 1 LOVD
00409232 28285769-Fam1PatI3 PubMed: Xu 2017 2-generation family, affected two brothers, unaffected three brothers heterozygous carrier parents M yes - Yemenite - - - - RPSKA craniofacial defects ; neurological defects: speech delay; delay of walking (3y); brachydactyly; ocular manifestations: retinitis pigmentosa; growth: short stature; additional abnormalities: cafe-au-lait spots 1 1 LOVD
00409233 ? PubMed: Brea-Fernandez 2019 expanded phenotype, not typical retinitis pigmentosa, with/without skeletal anomalies (RPSKA) F yes Spain - - - - - ? electroencephalogram, serum/urinary amino acid analysis, karyotyping, array CGH: normal results; brain magnetic resonance: ventricular system asymmetry, hypoplasia of the corpus callosum and minimum cerebellar atrophy; bilateral cataracts, retinal dystrophy, bilateral 10 dB hearing loss, hyperostosis frontalis interna, 11 pairs of ribs, osteopenia in hands, hypothyroidism (TSH: 13.8 [0.35-5.5mIU/l]; free T4: 1.26 [0.89-1.8 ng/dl]) hypergonadotropic hypogonadism (FSH: 69 IU/l, LH: 61 IU/l, and 17beta-estradiol: 22.4 pg/l); pelvic ultrasound: normal uterine structure, nonvisualized ovaries; spontaneous puberty was absent, pubertal induction with estrogen replacement therapy was required; 18y: divergent strabismus, malar telangiectasias, thinning of eyebrows, long philtrum, thin lips, hypoplastic teeth, dental agenesis, low weight (43.4 kg; -1.51 SDS; <3rd centile), short stature (139.7 cm; -3.64 SDS; <3rd centile), kyphoscoliosis, bilateral elbow, and left achilles contractures, lower limb dysmetria, clubbing of fingers, and ungueal dystrophy in feet; neurological traits: presents echolalia, inattention, hyperactivity, cheerful character, good social integration 1 1 LOVD
00447302 SRP-1204 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 2 1 Johan den Dunnen
00447599 SRP-1015 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
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