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Summary
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME HRDS
SANJAD-SAKATI SYNDROME
241410
OMIM = Online Medalian Inheritance of Men
2323
1q42.3
rare
autosomal reessive
homozygous or compound heterozygous mutation in the TBCE gene
mostly reported from Middle East countries
symptoms
cryptorchism
dysmorphism
epilepsy
growth retardation
infections (severe or recurrent)
intrauterine growth retardation
low set ears
mental retardation
microcephaly (<2 SD for age)
micropenis
microphthalmus
onset, infancy
psychomotor retardation
seizures
tetany
laboratory finding
Calcium decreasedserum
Phosphate increasedserum
Parathyroid hormone (PTH) lowserum
EEG abnormalities -
CT, brain, abnormalities -
Literature
Bali DS,et al.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyJIMD Rep002017
Lerner A,et al.A new variant of glycogen storage disease. Type IXcAm J Dis Child. 1982 May136(5):406-10.1365406-4101982
Bali DS,et al.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyJIMD Rep002017
Madhoun MF,Maple JT, Comp PCPhosphofructokinase deficiency and portal and mesenteric vein thrombosisAm J Med Sci3415417-4192011
Malfatti Eet al.Juvenile-onset permanent weakness in muscle phosphofructokinase deficiencyJ Neurol Sci3161173-1772012
Kim JA,et al.Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.Pediatr Gastroenterol Hepatol Nutr182138-1432015
Musumeci O,et al.Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)Neuromuscul Disord224325-3302012