User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Agranulocytosis
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Agranulocytosis is a very severe form of neutropenia. Neutrophils are a type of white blood cell that fight germs. In agranulocytosis, the number of ...

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Otocephaly
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Otocephaly is a very rare birth defect that happens very early in pregnancy. The baby’s lower face does not form in the usual way. The lower jaw (mandible) may ...

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Holoprosencephaly Agnathia
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Holoprosencephaly–agnathia is a very rare birth defect that affects both the brain and the face. In early pregnancy (about weeks 3–4), the front part of the ...

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Dysgnathia Complex With Agnathia–Holoprosencephaly
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Dysgnathia complex with agnathia–holoprosencephaly is a very rare birth defect pattern that affects the face and the brain together. “Agnathia” means the lower ...

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Agnathia Holoprosencephaly–Situs Inversus Syndrome
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This is an ultra-rare and typically lethal association of defects—most babies do not survive long after birth. The literature is made up mostly of case reports ...

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Agnathia–Otocephaly Complex (AOC)
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Agnathia–otocephaly complex is a very rare birth condition where the lower jaw (mandible) is missing or extremely small, and the ears may be fused toward the ...

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NK Cell Large Granular Lymphocyte Leukemia (NK-LGL leukemia)
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NK-cell large granular lymphocytic leukemia is a cancer of mature natural killer (NK) white blood cells. These cells become clonal (they come from one abnormal ...

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Large Granular Lymphocyte (LGL) Leukemia
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Large Granular Lymphocyte (LGL) Leukemia is a slow-growing blood cancer of mature immune cells called large granular lymphocytes. Most cases involve T-cells ...

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Aggressive NK-Cell Lymphoma
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Aggressive NK-cell lymphoma is a fast-growing blood cancer that starts from natural killer (NK) cells, a type of white blood cell your body uses to kill ...

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NK-Cell Leukemia
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NK-cell leukemia is a cancer where the body makes too many abnormal natural killer (NK) cells, a white blood cell that normally helps fight infections and ...

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Aggressive NK-cell Leukemia (ANKL)
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Aggressive NK-cell leukemia (ANKL) is a rare, fast-growing blood cancer that starts from natural killer (NK) cells, a type of white blood cell that normally ...

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Peripheral Neuropathy Associated with Agenesis of the Corpus Callosum
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Peripheral neuropathy means the nerves outside the brain and spinal cord do not work properly. These nerves carry signals for feeling (touch, pain, ...

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Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
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Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC)—also known as Andermann syndrome or ACCPN is a rare, inherited nerve ...

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Corpus Callosum Agenesis Neuronopathy Syndrome
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“Corpus callosum agenesis–neuronopathy syndrome” describes a condition where a person is born with a missing or very under-developed corpus callosum (the thick ...

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Charlevoix Disease
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Charlevoix disease is a rare, inherited brain and nerve disorder. It begins most often in childhood. The problem starts in the part of the brain that controls ...

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Andermann Syndrome
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Andermann syndrome is a rare genetic condition that affects both the brain and the nerves in the body. The main brain change is that the corpus callosum, the ...

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Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
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Agenesis of the corpus callosum with peripheral neuropathy is a rare, inherited brain-and-nerve condition. “Agenesis of the corpus callosum” means the big band ...

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Disorder of Glycine Amidinotransferase (AGAT) Activity
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Disorder of glycine amidinotransferase (AGAT) activity is a rare, inherited condition where the body cannot make enough creatine, a small energy-carrying ...

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Creatine Deficiency Syndrome
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Creatine deficiency syndrome is a group of rare, inherited brain energy disorders. In these conditions, the brain cannot make, move, or bring in enough ...

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Cerebral Creatine Deficiency Syndromes
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Cerebral Creatine Deficiency Syndromes are rare, inherited brain energy disorders in which the brain cannot make, convert, or transport enough creatine into ...

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