Disease #02477 (MLC (leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)))

Official abbreviation MLC
Name leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)
OMIM ID -
Inheritance -
Individuals reported having this disease 625
Phenotype entries for this disease 607
Associated with 2 genes HEPACAM, MLC1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-05-18 10:04:14 +02:00 (CEST)


Individuals

625 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00229668 Fam1 PubMed: Ben-Zeev 2002 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M yes Libya jew - - - - MLC - MLC1 MLC1 1 3 Johan den Dunnen
00229670 - PubMed: Boor 2006 - - - Brazil - - - - - MLC - MLC1 MLC1 1 1 SIB - Livia Famiglietti
00229671 - PubMed: Boor 2006 - - - Poland - - - - - MLC - MLC1 MLC1 1 1 SIB - Livia Famiglietti
00229679 - PubMed: Boor 2006 - - - Spain - - - - - MLC - MLC1 MLC1 1 2 SIB - Livia Famiglietti
00229682 - PubMed: Boor 2006 - - - Bangladesh;United Kingdom (Great Britain) - - - - - MLC - MLC1 MLC1 1 1 SIB - Livia Famiglietti
00441736 Fam1Pat1-EL104 PubMed: Passchier 2023 - M no - - - - - - MLC normal initial cognitive development; normal initial motor development; 9m-increased OFC; never walked; 4y-start motor decline; 6y-full wheelchair dependency; 4y-start cognitive decline; rage; no history psychiatric diagnoses; 4y-refractory generalized seizures; no status epilepticus; OFC >+2SD; clumsiness; spasticity of arms; spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; dysarthria; no dysphagia; severe cognitive deficit - GPRC5B 1 1 Rogier Min
00441737 Fam2Pat2-EL919 PubMed: Passchier 2023 - M no - - - - - - MLC mildly delayed initial cognitive development; mildly delayed initial motor development; 7m-increased OFC; 3y-walk; 4y-start motor decline; 5y-loss unsupported walking; 6y-full wheelchair dependency; 15y-start cognitive decline; no behavioural problems; no history psychiatric diagnoses; 14y-occasional generalized seizures; OFC 62 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; dysarthria; dysphagia; mild cognitive deficit; no autistic features - GPRC5B 1 1 Rogier Min
00441738 Fam3Pat3-EL138 PubMed: Passchier 2023 - F no - - - - - - MLC normal initial cognitive development; normal initial motor development; 6m-increased OFC; 13m-walk; 8y-start motor decline; 8y-loss unsupported walking; 12y-full wheelchair dependency; 14y-start cognitive decline; no behavioural problems; 14y-depression; two single seizures after fall (adulthood); no status epilepticus; OFC 61.5 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; no dystonia; rigidity; dysarthria; no dysphagia; mild cognitive deficit; no autistic features - GPRC5B 1 1 Rogier Min
00441739 Fam4Pat4-EL788 PubMed: Passchier 2023 2-generation family, 2 affected sibs, unaffected heterozygous parents M yes - - - - - - MLC highly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 4-5y-walk; no cognitive decline; in childhood agitation, impulsivity, hyperactivity and sleep disorder, later improvement; no history psychiatric diagnoses; 1y-severe epilepsy; frequent status epilepticus; OFC 57.5cm (normal); clumsiness; no spasticity of arms; no spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; mild rigidity; dysarthria; no dysphagia; severe cognitive deficit; no autistic features AQP4 AQP4 1 1 Rogier Min
00441740 Fam4Pat5-EL950 PubMed: Passchier 2023 sib F yes - - - - - - MLC mildly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 2y-walk; no cognitive decline; impulsivity, hyperactivity in early childhood, later normalization; no history psychiatric diagnoses; 1y-occasional generalized seizures; no status epilepticus; OFC 58 cm (>+2SD); clumsiness; no spasticity of arms; no spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; no dysarthria; mild cognitive deficit; no autistic features AQP4 AQP4 1 1 Rogier Min
00441953 PatEL85 PubMed: Lopez-Hernandez 2011 family, 2 affected F no Germany - - - - - MLC macrocephaly; normal early motor development; 18m-walk; normal language development; 2y-detoriation; ataxia, spasticity,; late cognitive; decline; 7y-wheelchair-bound; 11y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs HEPACAM HEPACAM 2 2 Rogier Min
00441954 PatEL84 PubMed: Lopez-Hernandez 2011 sib F no Germany - - - - - MLC macrocephaly; mildly delayed early motor development; 24m-walk; normal language development; 5y6m-detoriation; ataxia, spasticity,; dystonia, late mild; cognitive decline; 14y-wheelchair-bound; 32y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 2 1 Rogier Min
00441955 PatEL125 PubMed: Lopez-Hernandez 2011 - M no Germany;Turkey - - - - - MLC ataxia; normal early motor development; 18m-walk; normal language development; 3y-detoriation; ataxia; still ambulant; no seizures; no intellectual disability; OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 1 1 Rogier Min
00441956 PatEL106 PubMed: Lopez-Hernandez 2011 - F yes Saudi Arabia - - - - - MLC macrocephaly; delayed early motor development; 24m-walk; normal language development; 7y-detoriation; loss of speech; tube feeding; 7y-wheelchair-bound; 2y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs HEPACAM HEPACAM 1 1 Rogier Min
00441957 PatEL726 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; 4y-detoriation; ataxia, dysarthria, ataxia, dysarthria; 7y-wheelchair-bound; 3y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 2 1 Rogier Min
00441958 PatEL889 PubMed: Lopez-Hernandez 2011 family, 2 affected F yes Turkey - - - - - MLC macrocephaly; normal early motor development; 15m-walk; normal language development; 4y-detoriation; spasticity; still ambulant; 4y-seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs HEPACAM HEPACAM 1 2 Rogier Min
00441959 PatEL890 PubMed: Lopez-Hernandez 2011 sib F yes Turkey - - - - - MLC macrocephaly; normal early motor development; 17m-walk; normal language development; 17m-detoriation; spasticity; still ambulant; no seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs HEPACAM HEPACAM 1 1 Rogier Min
00441960 PatEL816 PubMed: Lopez-Hernandez 2011 - M yes Turkey - - - - - MLC febrile seizure; normal early motor development; 14m-walk; normal language development; 1y-detoriation; ataxia,; seizures; still ambulant; 1y-seizures; intellectual disability (IQ55); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 1 1 Rogier Min
00441961 PatEL774 PubMed: Lopez-Hernandez 2011 - M yes Hungary - - - - - MLC macrocephaly; mildly delayed early motor development; 26m-walk; delayed language development; 3y-detoriation; seizures,; cognitive; decline; still ambulant; 3y-seizures; OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 1 1 Rogier Min
00441962 PatEL785 PubMed: Lopez-Hernandez 2011 - M no Ireland - - - - - MLC macrocephaly; mildly delayed early motor development; 16m-walk; mildly delayed language development; no detoriation; still ambulant; 2y-seizures; intellectual disability (IQ60); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs HEPACAM HEPACAM 4 1 Rogier Min
00441963 PatEL611 PubMed: Lopez-Hernandez 2011 - M no Portugal - - - - - MLC macrocephaly; delayed early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441964 PatEL700 PubMed: Lopez-Hernandez 2011 - M no United Kingdom (Great Britain) - - - - - MLC macrocephaly; normal early motor development; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441965 PatEL158 PubMed: Lopez-Hernandez 2011 - F no Australia - - - - - MLC transient macrocephaly; delayed early motor development; 22m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs HEPACAM HEPACAM 2 1 Rogier Min
00441966 PatEL128 PubMed: Lopez-Hernandez 2011 - M no United States - - - - - MLC macrocephaly; delayed early motor development; 18m-walk; no speech; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC now 60->98perc.; cranial nerves normal; no hypotonia arms; no hypotonia legs HEPACAM HEPACAM 1 1 Rogier Min
00441967 PatEL624 PubMed: Lopez-Hernandez 2011 family, 2 affected M no United Kingdom (Great Britain) - 3y6m - - - MLC 3y6m-deceased (seizures); seizures, macrocephaly; delayed early motor development; 20m-walk; delayed language development; epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; hypotonia arms; clumsy with arms; hypotonia legs; clumsy with legs HEPACAM HEPACAM 1 2 Rogier Min
00441968 PatEL625 PubMed: Lopez-Hernandez 2011 sib M no United Kingdom (Great Britain) - - - - - MLC macrocephaly; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ75); OFC 90perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs HEPACAM HEPACAM 1 1 Rogier Min
00441969 PatEL683 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly, delay; delayed early motor development; 14m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441970 PatEL684 PubMed: Lopez-Hernandez 2011 family, 2 affected M no United States - - - - - MLC macrocephaly, delay; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 2 Rogier Min
00441971 PatEL604 PubMed: Lopez-Hernandez 2011 sib M no United States - - - - - MLC macrocephaly; delayed early motor development; 13m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441972 PatEL708 PubMed: Lopez-Hernandez 2011 - F no Australia - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs HEPACAM HEPACAM 1 1 Rogier Min
00441973 PatEL847 PubMed: Lopez-Hernandez 2011 - M no Hong Kong - - - - - MLC macrocephaly; normal early motor development; 16m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441974 PatEL686 PubMed: Lopez-Hernandez 2011 - F no Finland - - - - - MLC perinatal problems, small for gestational age, microcephaly, hypotonia; delayed early motor development; 32m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; mild hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441975 PatEL743 PubMed: Lopez-Hernandez 2011 - M yes India - - - - - MLC macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441976 PatEL775 PubMed: Lopez-Hernandez 2011 - F no Austria - - - - - MLC macrocephaly; normal early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; dysarthria NL; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 3 1 Rogier Min
00441977 PatEL903 PubMed: Lopez-Hernandez 2011 - F no Belgium - - - - - MLC transient macrocephaly; delayed early motor development; 18m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC 75perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441978 PatEL882 PubMed: Lopez-Hernandez 2011 - M no Netherlands - - - - - MLC macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ70); OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441979 PatEL862 PubMed: Lopez-Hernandez 2011 - F no Croatia (Hrvatska) - - - - - MLC macrocephaly; delayed early motor development; 22m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 1 1 Rogier Min
00441980 PatEL944 PubMed: Lopez-Hernandez 2011 - F no United States - - - - - MLC macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs HEPACAM HEPACAM 2 1 Rogier Min
00441981 Pat6 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 2 1 Rogier Min
00441982 Pat4 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441983 Pat1 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441984 Pat2 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441985 Pat3 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441986 Pat5 PubMed: Shi 2019 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441987 Pat11 PubMed: Abdel-Salam 2016 - - - Egypt - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441988 Pat12 PubMed: Abdel-Salam 2016 - - - Egypt - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441989 Pat19 PubMed: Cao 2016 - - - China - - - - - MLC - HEPACAM HEPACAM 2 1 Rogier Min
00441990 Pat9;Pat16 PubMed: Wang 2011, PubMed: Cao 2016 - M - China - - - - - MLC - HEPACAM HEPACAM, MLC1 2 1 Rogier Min
00441991 Pat17 PubMed: Cao 2016 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441992 Pat18 PubMed: Cao 2016 - - - China - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441993 - - - - - Denmark - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441994 - - - - - Belgium - - - - - MLC - HEPACAM HEPACAM 2 1 Rogier Min
00441995 - - - - - Turkey - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441996 - - - - - United Kingdom (Great Britain) - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441997 - - - - - United Kingdom (Great Britain) - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00441998 - - - - - United Kingdom (Great Britain) - - - - - MLC - HEPACAM HEPACAM 2 1 Rogier Min
00441999 - - - - - United Kingdom (Great Britain) - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442000 - - - - - Netherlands - - - - - MLC - HEPACAM HEPACAM 2 1 Rogier Min
00442001 - - - - - Netherlands - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442002 - - - - - Netherlands - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442003 - - - - - Argentina - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442004 - - - - - Australia - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442005 - - - - - Australia - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442006 - - - - - Netherlands - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442007 - - - - - Turkey - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442008 - - - - - Turkey - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442009 - - - - - Turkey - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442010 - - - - - Netherlands - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442011 - - - - - - - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442012 - - - - - Pakistan - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442013 - - - - - Malaysia - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442014 - - - - - Turkey - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442015 - - - - - Portugal - - - - - MLC - HEPACAM HEPACAM 1 1 Rogier Min
00442017 M62 PubMed: Leegwater 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) - yes Japan - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442018 M66 PubMed: Leegwater 2001 - - - Japan - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442019 M75 PubMed: Leegwater 2001 - - - Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442020 M73 PubMed: Leegwater 2001 - - - Japan - - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442021 FamML1PatM2/M4 PubMed: Leegwater 2001 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents (1st cousins) M;F yes Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442022 M112 PubMed: Leegwater 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) - yes Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442023 M14 PubMed: Leegwater 2001 - - - India - - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442024 M20 PubMed: Leegwater 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) - yes Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442025 FamPatM39/M42 PubMed: Leegwater 2001 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins) - yes - Middle East - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442026 M81 PubMed: Leegwater 2001, PubMed: Leegwater 2002 - - - Yugoslavia - - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442027 M23 PubMed: Leegwater 2001 - - - Croatia (Hrvatska) - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442028 FamPatM31/M32 PubMed: Leegwater 2001 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins) - yes Croatia (Hrvatska) - - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442029 M120 PubMed: Leegwater 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins) - yes Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442030 M44 PubMed: Leegwater 2002 - - - India - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442031 M141 PubMed: Leegwater 2002 - - - India - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442032 M198 PubMed: Leegwater 2002 - - - India - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442033 FamPatM58/M59 PubMed: Leegwater 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins) - yes United Kingdom (Great Britain);Pakistan - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442034 M177 PubMed: Leegwater 2002 - - - - Africa-N - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442035 M57 PubMed: Leegwater 2002 - - - Turkey - - - - - MLC see paper; ... MLC1 MLC1 7 1 Johan den Dunnen
00442036 M90 PubMed: Leegwater 2002 - - - France - - - - - MLC see paper; ... MLC1 MLC1 7 1 Johan den Dunnen
00442037 M94 PubMed: Leegwater 2002 - - - Croatia (Hrvatska) - - - - - MLC see paper; ... MLC1 MLC1 7 1 Johan den Dunnen
00442038 M89 PubMed: Leegwater 2002 - - - United Kingdom (Great Britain) Europe-E - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442039 M147 PubMed: Leegwater 2002 - - - Croatia (Hrvatska) - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442040 M180 PubMed: Leegwater 2002 - - - - America-N - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442041 M8 PubMed: Leegwater 2002 - - - Italy;Netherlands - - - - - MLC see paper; ... MLC1 MLC1 2 1 Johan den Dunnen
00442042 FamPatM150/M151 PubMed: Leegwater 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - - America-S - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
00442043 M155 PubMed: Leegwater 2002 - - - Turkey - - - - - MLC see paper; ... MLC1 MLC1 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.