Disease #00678 (NSLL (Noonan syndrome-like disorder with/without juvenile meylomonocytic leukemia (NSLL)), OMIM:613563)

Official abbreviation NSLL
Name Noonan syndrome-like disorder with/without juvenile meylomonocytic leukemia (NSLL)
OMIM ID 613563
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 13
Phenotype entries for this disease 7
Associated with 1 gene CBL
Associated tissues -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00043985 - - - F - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00043986 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00043987 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00043988 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00043989 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00043990 - - - M - (United Kingdom (Great Britain)) - - 0 - - NSLL - PTPN11 PTPN11 1 1 Pia Ostergaard
00080995 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - NSLL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (OMIM:613563) CBL CBL 1 1 Daniel Trujillano
00092258 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - NSLL mild IDD, ADHD, dysmorphic features, splenomegaly, thrombocytopenia; storage disease phenotype, normal stature CBL - 0 1 Johan den Dunnen
00206470 - - - M - - - - 0 - - NSLL - CBL CBL 1 1 LOVD
00206471 - - - F - - - - 0 - - NSLL - CBL CBL 1 1 LOVD
00206472 - - - F - - - - 0 - - NSLL - CBL CBL 1 1 LOVD
00206473 - - - F - - - - 0 - - NSLL - CBL CBL 1 1 LOVD
00380808 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - NSLL DD; vertebral malformations; tracheoesophageal fistula (Multiple systems) - CBL 1 1 LOVD
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