All individuals with variants in gene MYLPF

19 entries on 1 page. Showing entries 1 - 19.
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00050683 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development 1 2 Johan den Dunnen
00307011 FamAPatVI1 PubMed: Chong 2020 7-generation family, affected brother/sister M yes Poland - - - - - DA weight <1%ile, height 1.15ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028) 1 1 Johan den Dunnen
00307012 FamAPatVI2 PubMed: Chong 2020 sister F yes Poland - - - - - DA weight 8%ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239) 1 1 Johan den Dunnen
00307013 FamBPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes India - - - - - DA weight 8.8%ile, height <1%ile; small mouth (HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); camptodactyly, toes (HP:0001836); contractures of wrists (HP:0001239); undescended testicles (HP:0000028) 1 1 Johan den Dunnen
00307014 FamCPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - DA weight <1%ile, height <1%ile; no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239) 1 1 Johan den Dunnen
00307015 FamDPatIV2 PubMed: Chong 2020 4-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - DA short stature (HP:0004322);; ; no knee contractures (-HP:0006380); no camptodactyly, fingers (-HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239) 1 1 Johan den Dunnen
00307016 FamEPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes Pakistan - - - - - DA analysis at birth (37w+2); weight 3–10%ile (1,820 g); no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); no undescended testicles (-HP:0000028); short neck (HP:0000470) 1 1 Johan den Dunnen
00307017 FamFPatIV8 PubMed: Chong 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents - yes India - - - - - DA analysis 12w gestation (antenatal ultrasound); no small mouth (-HP:0000160); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650);; equinovarus (HP:0001762); ; increased nuchal translucency 1 1 Johan den Dunnen
00307018 FamFPatIV10 PubMed: Chong 2020 sister F yes India - - - - - DA analysis 19w gestation (perinatal autopsy); weight 50%ile (249 g), height 48%ile (22 cm); small mouth (HP:0000160), retrognathia (HP:0000278); thin vermilion (HP:0000233), bifid uvula (HP:0000193); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no undescended testicles (-HP:0000028); short neck (HP:0000470) 1 1 Johan den Dunnen
00307019 FamFPatIII2 PubMed: Chong 2020 fetus F yes India - - - - - DA no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no equinovarus (-HP:0001762); ; contractures of wrists (HP:0001239) 1 1 Johan den Dunnen
00307020 FamFPatIII3 PubMed: Chong 2020 fetus F yes India - - - - - DA no small mouth (-HP:0000160); thin vermilion (HP:0000233); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); equinovarus (HP:0001762); ; contractures of wrists (HP:0001239) 1 1 Johan den Dunnen
00307021 FamGPatII1 PubMed: Chong 2020 3-generation family, affected father/son, unaffacted non-carrier grandparents M - - Jewish-Ashkenazi - - - - DA see paper; ..., camptodactyly, fingers (HP:0100490); contractures of wrists (HP:0001239) 1 2 Johan den Dunnen
00307022 FamGPatIII1 PubMed: Chong 2020 son M - - Jewish-Ashkenazi - - - - DA see paper; ..., weight <3rd %ile; small mouth (HP:0000160), limited opening (HP:0000211); high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); camptodactyly, toes (HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028) 1 1 Johan den Dunnen
00307023 FamHPatIV3 PubMed: Chong 2020 4-generation family, 6 affected (5F, M) F - France - - - - - DA see paper; ..., weight +1.5 SD, height +0.5 SD; small mouth (HP:0000160), retrognathia (HP:0000278); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838) (right); equinovarus (HP:0001762) (left); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); chin skin folds 1 6 Johan den Dunnen
00307024 FamHPatIII6 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., weight −0.5 SD, height -0.5 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044) 1 1 Johan den Dunnen
00307025 FamHPatII7 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., weight +0.5 SD, height 0 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044) 1 1 Johan den Dunnen
00307026 FamHPatIII2 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., small mouth (HP:0000160); pursed lips (HP:0000205); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), blepharophimosis (HP:0000581) 1 1 Johan den Dunnen
00307027 FamHPatIV1 PubMed: Chong 2020 - M - France - - - - - DA see paper; ..., weight −1 SD, height 0 SD; small mouth (HP:0000160); pursed lips (HP:0000205), high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), fifth finger clinodactyly (HP:0004209) 1 1 Johan den Dunnen
00390025 3 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula 1 1 LOVD
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