Disease #00987 (LIG4 syndrome (LIG4 syndrome), OMIM:606593)

Official abbreviation LIG4 syndrome
Name LIG4 syndrome
OMIM ID 606593
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene LIG4
Associated tissues -
Disease features -
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00240072 - - - M no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Severe combined immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240073 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240074 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 2 Jennie Murray
00240075 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240076 - - - M no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240077 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240078 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240079 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240080 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
00240081 - - - F no - - - 0 - - LIG4 syndrome Microcephalic Primordial Dwarfism, Bone Marrow Failure, Immunodeficiency LIG4 LIG4 2 1 Jennie Murray
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