IHPRF syndrome
IHPRF syndrome Synonyms Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal What are the symptoms of IHPRF syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms
Rare Diseases
ICCA syndrome
ICCA syndrome Synonyms Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal What are the symptoms of ICCA syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes ICCA syndrome? How is this condition diagnosed? Differential diagnosis Differential diagnosis includes other paroxysmal dystonias such as Genetic counseling Management and treatment – How is this condition treated? …
I cell disease
I cell disease in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Antenatal, Neonatal How common is I cell disease? What causes I cell disease? What are the symptoms of I cell disease? Very frequent symptoms Frequent symptoms Occasional symptoms Rare symptoms Clinical description How is this condition diagnosed? Differential diagnosis Differential …
De la Chapelle syndrome
De la Chapelle syndrome in short Synonyms of De la Chapelle syndrome Inheritance Autosomal dominant Age of onset Epidemiology – how common is De la Chapelle syndrome? What are the symptoms of De la Chapelle syndrome? Very frequent symptoms Clinical description What causes this condition? Differential diagnosis The main differential diagnoses are NR2F2 gene variants have …
Reticular dysgenesis
Reticular dysgenesis in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal Epidemiology – How common is Reticular dysgenesis? What are the symptoms of Reticular dysgenesis? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes this condition? Differential diagnosis Antenatal diagnosis Genetic counseling Management and treatment – How is …
De Morsier syndrome
De Morsier syndrome in short Synonyms Prevalence: Unknown Inheritance: Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable Age of onset: Antenatal, Infancy, Neonatal How common is De Morsier syndrome? Incidence is estimated at 1/10,000 live births. What are the symptoms of De Morsier syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description Severity of the condition varies widely, …
DESC syndrome
DESC syndrome in short Synonyms Age of onset: All ages How common is DESC syndrome? What are the symptoms of DESC syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms Clinical description What causes this condition? How is DESC syndrome diagnosed? Differential diagnosis Management and treatment – How is DESC syndrome condition treated? What is the prognosis …