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TIMOTHY SYNDROME; TS

TIMOTHY SYNDROME; TS
601005
OMIM = Online Mendelian Inheritance of Men
65283
Voltage-dependent L-type calcium channel subunit alpha-1C
12p13.33
I45.8
very rare (~10 cases)
autosomal dominant
mutation in the CACNA1C gene
Laboratory findings    D-Glucose normal/dec (plasma)
Symptoms    behavior, autism or autistic-like
    cardiac arrhythmia, dysrhythmia
    contractures, joints
    developmental delay
    dysmorphism
    flat depressed nasal bridge (saddle nose)
    hyperinsulinism
    hypocalcemia
    hypoglycemia
    hypotonia
    infections (respiratory tract/system)
    infections (severe or recurrent)
    learning disability
    low set ears
    mental retardation
    onset, childhood
    onset, infancy
    onset, neonatal
    pneumonia
    pulmonary hypertension
    seizures
    sparse or absent scalp hair (focal or general)
    syndactyly
    Teeth: generalized defect or abnormalities
    ventricular septal defect