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Summary
CK SYNDROME
MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
300831
OMIM = Online Medalian Inheritance of Men
251383
Xq28
rare
X-linked recessive
mutation in the NSDHL gene can cause CHILD syndrome and CK syndrome
symptoms
behavior. aggressive
cognitive impairment
dysmorphism
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
irritability
mental retardation
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
optic atrophy
scoliosis
seizures
skeletal changes, skeletal abnormalities
speech difficulties
strabismus
laboratory finding
MRI, brain, abnormalities -
4, 4-dimethylsterols +€mol/lplasma
4+¦-methylsterols +€mol/lplasma
Literature
Di Fabio R,et al.Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs diseaseNeurology83191769-17702014
Smith KR,et al.Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageAm J Hum Genet9061102-11072012
Santoro L,et al.Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutatioNeurogenetics12133-392011
Hafler BP,et al.Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient miceBrain Res15880168-1742014
Smith KR,et al.Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisHum Mol Genet2271417-14232013
Canafoglia L,et al.Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutationEpilepsia. 2014 Jun55(6):e56-9. d556e56-592014