User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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ATP8B1 Benign Recurrent Intrahepatic Cholestasis (BRIC1)
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ATP8B1 Benign Recurrent Intrahepatic Cholestasis (BRIC1) is a rare, inherited liver condition caused by changes in the ATP8B1 gene. This gene helps keep the ...

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Benign Recurrent Intrahepatic Cholestasis Type 1
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Benign recurrent intrahepatic cholestasis type 1 is a rare, inherited liver condition. “Benign” means it usually does not cause permanent liver scarring. ...

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Summerskill–Walshe–Tygstrup Syndrome
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Summerskill–Walshe–Tygstrup syndrome is a rare, inherited liver condition. People with this condition have repeated attacks of cholestasis, which means the ...

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Benign Recurrent Cholestasis (BRC/BRIC)
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Benign recurrent cholestasis (BRC/BRIC) is a rare liver condition where bile flow from the liver slows or stops for weeks to months, then gets better by itself ...

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Benign Familial Recurrent Cholestasis (BRIC)
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Benign familial recurrent cholestasis (BRIC) is a rare, inherited liver condition. “Benign” means it does not usually lead to permanent liver damage. ...

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Benign Recurrent Intrahepatic Cholestasis (BRIC)
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Benign recurrent intrahepatic cholestasis (BRIC) is a rare, inherited liver condition. It causes repeated “attacks” when bile cannot flow out of liver cells ...

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Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy
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Benign partial epilepsy with secondarily generalized seizures in infancy (now grouped by the International League Against Epilepsy under self-limited infantile ...

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Benign Partial Epilepsy of Infancy with Complex Partial Seizures
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Benign Partial Epilepsy of Infancy with Complex Partial Seizures—historically “benign familial (or non-familial) infantile seizures,” sometimes described as ...

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Benign Paroxysmal Torticollis of Infancy (BPTI)
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Benign paroxysmal torticollis of infancy is a short-lasting, repeatable head-tilt problem that starts in babies. During an “attack,” a baby’s head tilts to one ...

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Ouvrier–Billson Syndrome
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Ouvrier–Billson syndrome is a rare neuro-ophthalmic condition in babies and young children. During “spells,” the child’s eyes hold a fixed upward gaze, often ...

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Neuroocular Syndrome 2
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Neuroocular syndrome 2, paroxysmal type (NOC2)”—a disorder best known for recurrent upward eye deviation (or vertical nystagmus) with abnormal head posturing ...

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Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia
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Benign paroxysmal tonic upgaze of childhood with ataxia is a rare, early-life movement and eye-movement condition. “Paroxysmal” means it comes in bursts or ...

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Self-Limited Familial Neonatal Epilepsy (SLFNE)
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Self-limited familial neonatal epilepsy (SLFNE) is a genetic epilepsy that starts in the first days of life in otherwise healthy newborns. Seizures often ...

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Convulsions Benign Familial Neonatal Dominant Form
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Convulsions benign familial neonatal dominant form is the modern name for what used to be called benign familial neonatal convulsions. It is a genetic epilepsy ...

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Benign Neonatal Familial Convulsions (BNFC)
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Benign neonatal familial convulsions (BNFC) is a rare, inherited epilepsy syndrome. Seizures begin in otherwise healthy newborns, most often between day 2 and ...

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Benign Familial Neonatal Seizures (BFNS)
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Benign familial neonatal seizures is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Seizures are brief, can ...

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Benign Familial Neonatal Epilepsy (BFNE)
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Benign familial neonatal epilepsy is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Babies have short ...

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Benign Familial Neonatal Convulsions (BFNC)
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Benign familial neonatal convulsions (BFNC) are brief seizures that start in the first days of life in otherwise healthy newborns, often occurring in clusters, ...

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Benign Familial Convulsions
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Benign familial convulsions are brief seizures in babies who are otherwise well. “Benign” (now replaced by the term self-limited) means seizures stop by ...

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Benign Familial Neonatal Seizures (BFNS)
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Benign familial neonatal seizures (BFNS) is a rare, inherited epilepsy syndrome that starts in the first days of life, usually between day 2 and day 8 after ...

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