Details of Disease

General Information of Disease (ID: DISF75J3)

Disease Name Seckel syndrome 7
Synonyms Seckel syndrome 7; microcephalic primordial dwarfism, Dauber type; Seckel syndrome type 7; Seckel syndrome caused by mutation in NIN; SCKL7; NIN Seckel syndrome
Definition
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.|ORDO calls this microcephalic primordial dwarfism, Dauber type
Disease Hierarchy
DISEVUBA: Seckel syndrome
DISF75J3: Seckel syndrome 7
Disease Identifiers
MONDO ID
MONDO_0013922
UMLS CUI
C3553870
OMIM ID
614851
MedGen ID
766784
Orphanet ID
319675

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NIN OTVH3M4Z Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.