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ZLS3
MCID: ZMM004
MIFTS: 17
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Zimmermann-Laband Syndrome 3 (ZLS3)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Zimmermann-Laband Syndrome 3:Characteristics:Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Oral diseases Ear diseases Smell/Taste diseases Liver diseases |
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UniProtKB/Swiss-Prot :
73
Zimmermann-Laband syndrome 3: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS3 inheritance is autosomal dominant.
MalaCards based summary : Zimmermann-Laband Syndrome 3, is also known as zls3. An important gene associated with Zimmermann-Laband Syndrome 3 is KCNN3 (Potassium Calcium-Activated Channel Subfamily N Member 3). OMIM : 56 Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). (618658) |
Diseases in the Zimmermann-Laband Syndrome family:
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618658 |
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Articles related to Zimmermann-Laband Syndrome 3:
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Genes related to Zimmermann-Laband Syndrome 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Zimmermann-Laband Syndrome 3:6
UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 3:73
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Search
GEO
for disease gene expression data for Zimmermann-Laband Syndrome 3.
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