All individuals with variants in gene KLHL7

84 entries on 1 page. Showing entries 1 - 84.
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00050382 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild 1 1 Johan den Dunnen
00078698 27392078-FamPatCS_144 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 00y21m - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no retinitis pigmentosa (-HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), no full cheeks (-HP:0000293), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371),; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) 1 1 Jamie Zeegers
00078699 27392078-FamPatCS_258 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish >06y - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), cold-induced sweating (HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278) 1 1 Jamie Zeegers
00078700 27392078-PanPatCS_259 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents F yes Turkey Turkish 02y - - - CISS contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), cyanosis (HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), no foot anomalies (-HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) 1 1 Jamie Zeegers
00078701 27392078-FamGPatCS_260 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish >04y - - - CISS hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); episodic fever (HP:0001954); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) 1 1 Jamie Zeegers
00078702 27392078-FamPatCS_169 PubMed: Angius 2016, Journal: Angius 2016 2-generation family, unaffected heterozygous carrier parents M yes Turkey Turkish 00y07m - - - CISS no hyperthermia (-HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), no joint contractures (-HP:0001371), psychomotor retardation (HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); no episodic fever (-HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278) 1 1 Jamie Zeegers
00232842 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00294416 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308518 - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309213 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328032 G001365 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00328116 G005238 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328337 W000372 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00333504 38 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA1a 1 1 LOVD
00333505 39 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 1 1 LOVD
00333586 295 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1aiv 1 1 LOVD
00333587 296 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - retinal disease clinical category IA1aiv 1 2 LOVD
00372082 F10 PubMed: Yoon 2015 family - - Korea - - - - - retinal disease see paper; ... 1 1 LOVD
00376810 VCH010 PubMed: Daiger 2014 - - - United States - - - - - retinal disease - 1 1 LOVD
00376816 RFS038 PubMed: Daiger 2014 - - - United States - - - - - retinal disease - 1 1 LOVD
00377719 - PubMed: Bowne 2011 - - no - white - - - - retinal disease - 1 1 LOVD
00379652 IR_GH_0034 - - F - Korea, South (Republic) - - - - - RP HP:0032037 HP:0000662 HP:0000613, HP:0001133, HP:0000006, HP:0007795, HP:0000510 1 1 Jinu Han
00379656 IR_GS_0039 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510 1 1 Jinu Han
00381781 - PubMed: Sullivan-2013 - - no - - - - - - retinal disease - 1 1 LOVD
00386560 001-427 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 1 1 LOVD
00386976 2 PubMed: Jauregui 2020 - F - (United States) white - - - - retinal disease - 1 1 LOVD
00386977 3 PubMed: Jauregui 2020 - F - (United States) Asian - - - - retinal disease - 1 1 LOVD
00386978 4 PubMed: Jauregui 2020 - M - (United States) Other - - - - retinal disease - 1 1 LOVD
00389173 457 PubMed: Weisschuh 2020 Filing key number: 148, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389606 890 PubMed: Weisschuh 2020 Filing key number: 372, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390294 G001365 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390295 G005238 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390296 W000372 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00394480 - PubMed: Colombo-2020 - F no - - - - - - retinal disease - 1 1 LOVD
00394605 - PubMed: Colombo-2020 - F no - - - - - - retinal disease - 2 1 LOVD
00426703 - PubMed: Friedman 2009 - - - - Scandinavian - - - - retinal disease - 1 23 LOVD
00426704 - PubMed: Friedman 2009 - - - - North American - - - - retinal disease - 1 2 LOVD
00426705 - PubMed: Hugosson-2010, PubMed: Friedman 2009 - - - - Scandinavian - - - - retinal disease - 1 11 LOVD
00426706 - PubMed: Friedman 2009 - - - - UK - - - - retinal disease - 1 1 LOVD
00426707 - PubMed: Friedman 2009 - - - - North American - - - - retinal disease - 1 3 LOVD
00426708 - PubMed: Friedman 2009 - - - - North American - - - - retinal disease - 1 1 LOVD
00426709 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426710 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426711 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426712 - PubMed: Friedman 2009 - - - United Kingdom (Great Britain);United States - - - - - retinal disease - 1 1 LOVD
00426713 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426714 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426715 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426716 - PubMed: Friedman 2009 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00426717 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426718 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426719 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426720 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426721 - PubMed: Friedman 2009 - - - United Kingdom (Great Britain);United States - - - - - retinal disease - 1 1 LOVD
00426722 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 2 1 LOVD
00426723 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 1 1 LOVD
00426724 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 2 1 LOVD
00426725 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 2 2 LOVD
00426726 - PubMed: Friedman 2009 - - - United States North American - - - - retinal disease - 3 1 LOVD
00426727 - PubMed: Bruel 2017 - F no Syria - - - - - retinal disease microcephaly, exophthalmos, nevus flammeus of the glabella, expressionless face, anteverted nares, hypertelorism, micrognathia and low-set ears; limb contractures, persistent flexion of the elbows, axial hypotonia and segmental hypertonia; non-specific seizures and had profound global developmental delay 1 1 LOVD
00426728 - PubMed: Bruel 2017 - M no Syria - - - - - retinal disease microcephaly, exophthalmos, nevus flammeus of the glabella, expressionless face, anteverted nares, hypertelorism, micrognathia and low-set ears; limb contractures, persistent flexion of the elbows, axial hypotonia and segmental hypertonia; non-specific seizures and had profound global developmental delay; ostium secundum atrial septal defect 1 1 LOVD
00426729 - PubMed: Bruel 2017 - M no Italy - - - - - retinal disease hypertelorism, exophthalmos and frontal nevus flammeus; bilateral camptodactyly of the third finger, bilateral camptodactyly of the third finger and flexion of both elbows, a fixed position of the shoulders and stiffness in all joints, suggesting a BOS posture; abnormal vagal activity with peripheral hypertonia and bilateral profound deafness; no swallowing reflex, poor facial expression, lack of head control and nearly absent pupillary light reflex 1 1 LOVD
00426730 - PubMed: Bruel 2017, PubMed: Heng 2019 - M no United Kingdom (Great Britain) - - - - - retinal disease severe respiratory distress at birth; nevus flammeus, exophthalmos, hypertelorism, low-set ears, micrognathia and microcephaly; BOS posture and rhizomelic upper limb shortening; global developmental delay and absent speech. Retinal findings by Heng 2019: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bull’s-eye maculopathy; fibrotic ring around the fovea suggesting a more advanced pathology 1 1 LOVD
00426731 - PubMed: Bruel 2017, PubMed: Heng 2019 - F no United Kingdom (Great Britain) - - - - - retinal disease severe respiratory distress, pulmonary hypertension and throm bocytopenia; nevus flammeus, exophthalmos, hypertelorism, low-set ears, micrognathia and microcephaly; BOS posture and rhizomelic upper limb shortening; global developmental delay and absent speech. Retinal findings by Heng 2019: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bull’s-eye maculopathy; depigmented area around the fovea giving 1 1 LOVD
00426732 - PubMed: Bruel 2017 - M yes United Kingdom (Great Britain) - - - - - retinal disease small cardiac ventricular septal defect; development was severely delayed; he started walking at 8 years of age; recurrent and severe aspiration pneumonia; axial hypotonia, fixed contractures of the fingers and toes and ulnar deviation of the right wrist, suggesting the BOS posture; exophthalmos, hypertelorism, micrognathia, low-set posteriorly rotated ears and significant hirsutism; microcephaly and a thin corpus callosum and prominence of the sulci gyri, pericerebral cerebrospinal fluid spaces, ventricles and basal cisterns 1 1 LOVD
00426733 - PubMed: Kanthi-2019 - M yes - - - - - - retinal disease cold induced sweating; global developmental delay, facial dysmorphism, spasticity and failure to thrive; triangular face, sparse, hypopigmented hair, prominent forehead, facial nevus simplex (flammeus) on the forehead, hirsutism, arched eyebrows, dysplastic ears, downturned corners of mouth, gum hypertrophy, narrow palate. Spasticity, contractures at elbow, camptodactyly and absent deep tendon reflexes; retinal pigmentary abnormalities and mottling 2 1 LOVD
00426734 P2 PubMed: Oh 2019 - F - - Irish - - - - retinal disease retinal pigment migration up toarcades; BCVA at first visit 20/150,20/150; BCVA at most recent visit 20/CF@2 ft.,20/CF@4ft 1 1 LOVD
00426735 P3 PubMed: Oh 2019 - F - - Korean - - - - retinal disease retinal pigment migration up to arcades; cystoid macular edema OU; BCVA at first visit 20/20,20/25; BCVA at most recent visit 20/30,20/30 1 1 LOVD
00426736 P4 PubMed: Oh 2019 - F - - Caucasian(unspecified) - - - - retinal disease retinal pigment migration up to arcades; cystoid macular edema OS; BCVA at first visit 20/50,20/40 1 1 LOVD
00426737 P5 PubMed: Oh 2019 - F - - Irish - - - - retinal disease retinal pigment migration up to arcades; cystoid macular edema OU; BCVA at first visit 20/30,20/30; BCVA at most recent visit 20/40,20/40 1 1 LOVD
00426738 Patient II:1 PubMed: Cheraghi-2020 - F no Iran Iranian - - - - retinal disease peripheral retinal and optic disc atrophy; seizures in infancy controlled by Phenobarbital; severe psychomotor delay and growth retardation, never developed head control, sitting, standing or walking, no speech at all, and had a history of hospitalization for respiratory distress, chronic diarrhea, urinary infection and an operation for patent ductus arteriosus (PDA); severe growth retardation, short stature and severe secondary microcephaly; facial dysmorphism including prominent eyes, broad nasal bridge, large ears, micrognathia, hypertelorism, low frontal hairline and low set ears; upper and lower extremity contractures, clasped hands, foot deformity and overriding toes; 1 1 LOVD
00426739 Patient II:2 PubMed: Cheraghi-2020 - F no Iran Iranian - - - - retinal disease operation for an atrial septal defect (ASD) at 4 months. She also had an inguinal hernia which was repaired at age 12 months. She was never able to sit, stand, walk or speak; severe growth retardation, severe secondary microcephaly and short stature; prominent eyes, broad nasal bridge, hypertelorism, low set ears, micrognathia and large ears. She had severe psychomotor delay and contractures in the upper and lower extremities. She also had a foot deformity, overriding toes and clasped hands 1 1 LOVD
00429492 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00429532 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00429536 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00429910 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00440442 PED1065.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00446960 ADRP--518-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 1 2 Johan den Dunnen
00446961 ADRP--518-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447166 MDS-418 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447585 SRP-391 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00461133 Pat68 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - retinal disease - 1 1 Johan den Dunnen
00467633 FamPat15 PubMed: Elmas 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - ? see paper; ..., fetal akinesia, intra-uterine growth retardation, 30wg-developmental dela; neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, iugr, perinatal asphyxia, y shaped syndactyly, hypospadias, scoliosis, intestinal obstruction; MRI periventricular hyperintensity, thin corpus callosum, third and lateral ventricles dilated; no cardiac anomalies 1 2 Johan den Dunnen
00467634 FamPat16 PubMed: Elmas 2019 brother M yes Turkey - - - - - ? see paper; ..., fetal akinesia, intra-uterine growth retardation, 30wg-developmental dela; neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, perinatal asphyxia, y shaped syndactyly, hypospadias, scoliosis, intestinal obstruction, abnormal eeg; MRI lateral ventricles dilated, plagiocephaly; no cardiac anomalies 1 1 Johan den Dunnen
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