LIS4
MCID: LSS010
MIFTS: 38
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Lissencephaly 4 (LIS4)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lissencephaly 4:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero lack of psychomotor development four families have been reported (last curated june 2011) HPO:31
lissencephaly 4:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Respiratory diseases Muscle diseases |
OMIM :
56
Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). (614019)
MalaCards based summary : Lissencephaly 4, also known as lissencephaly 4 with microcephaly, is related to microlissencephaly and microlissencephaly-micromelia syndrome. An important gene associated with Lissencephaly 4 is NDE1 (NudE Neurodevelopment Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitotic Metaphase and Anaphase. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are seizure and short stature UniProtKB/Swiss-Prot : 73 Lissencephaly 4: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation. |
Human phenotypes related to Lissencephaly 4:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614019 |
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MalaCards organs/tissues related to Lissencephaly 4:40
Brain,
Cortex,
Cerebellum
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Articles related to Lissencephaly 4:
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ClinVar genetic disease variations for Lissencephaly 4:6 (show top 50) (show all 134)
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Search
GEO
for disease gene expression data for Lissencephaly 4.
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