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MCID: KLP016
MIFTS: 20
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Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism
Categories:
Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline...
MalaCards integrated aliases for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:
Name: Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism
57
75
29
6
Characteristics:Orphanet epidemiological data:59
klippel-feil anomaly-myopathy-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable features three unrelated patients have been reported (last curated october 2017) HPO:32
klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
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UniProtKB/Swiss-Prot
:
75
Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism: A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies.
MalaCards based summary : Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism, is also known as kfs4. An important gene associated with Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism is MYO18B (Myosin XVIIIB). Affiliated tissues include bone, and related phenotypes are low-set ears and short neck OMIM : 57 Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (616549) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616549Human phenotypes related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:32 (show all 17)
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MalaCards organs/tissues related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:41
Bone
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Genes related to Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism:6
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Search
GEO
for disease gene expression data for Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism.
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