GDFD
MCID: GRW039
MIFTS: 23
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Growth Retardation, Developmental Delay, and Facial Dysmorphism (GDFD)
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Growth Retardation, Developmental Delay, and Facial Dysmorphism
MalaCards integrated aliases for Growth Retardation, Developmental Delay, and Facial Dysmorphism:
Characteristics:Orphanet epidemiological data:59
lethal polymalformative syndrome, boissel type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32
growth retardation, developmental delay, and facial dysmorphism:
Inheritance autosomal recessive inheritance Classifications:
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Growth retardation, developmental delay, and facial dysmorphism: A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years.
MalaCards based summary : Growth Retardation, Developmental Delay, and Facial Dysmorphism, is also known as growth retardation, developmental delay, coarse facies, and early death, and has symptoms including seizures An important gene associated with Growth Retardation, Developmental Delay, and Facial Dysmorphism is FTO (FTO, Alpha-Ketoglutarate Dependent Dioxygenase). Affiliated tissues include brain and tongue, and related phenotypes are short neck and obesity OMIM : 57 Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016). (612938) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612938Human phenotypes related to Growth Retardation, Developmental Delay, and Facial Dysmorphism:32 (show all 28)
UMLS symptoms related to Growth Retardation, Developmental Delay, and Facial Dysmorphism:seizures |
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MalaCards organs/tissues related to Growth Retardation, Developmental Delay, and Facial Dysmorphism:41
Brain,
Tongue
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UniProtKB/Swiss-Prot genetic disease variations for Growth Retardation, Developmental Delay, and Facial Dysmorphism:75
ClinVar genetic disease variations for Growth Retardation, Developmental Delay, and Facial Dysmorphism:6 (show top 50) (show all 138)
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Search
GEO
for disease gene expression data for Growth Retardation, Developmental Delay, and Facial Dysmorphism.
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