Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Atelosteogenesis
Occasional (5-29%)
Mannosidosis
Very frequent (80-99%)
Sotos' syndrome
Occasional (5-29%)
Deficiency of alpha-mannosidase
Very frequent (80-99%)
Very long chain acyl-CoA dehydrogenase deficiency
Very rare (1-4%)
Carbohydrate-deficient glycoprotein syndrome type I
Occasional (5-29%)
Congenital disorder of glycosylation type Ia
Occasional (5-29%)
Autosomal recessive cerebelloparenchymal disorder type 3
Occasional (5-29%)
Proximal 16p11.2 microdeletion syndrome
Occasional (5-29%)
Distal monosomy 10q
Frequent (30-79%)
CDG2G - carbohydrate deficient glycoprotein syndrome type 2G
Frequent (30-79%)
X-linked intellectual disability with cerebellar hypoplasia syndrome
Occasional (5-29%)
Acrofacial dysostosis Catania type
Always present (100%)
Frank-Ter Haar syndrome
Always present (100%)
Joubert syndrome with orofaciodigital defect
Occasional (5-29%)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
Very frequent (80-99%)
Atelosteogenesis type 1
Occasional (5-29%)
Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)
Occasional (5-29%)
Pyridoxine-dependent epilepsy
Occasional (5-29%)
Mitochondrial DNA depletion syndrome 13 encephalomyopathic type
Occasional (5-29%)
SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation
Occasional (5-29%)
White Sutton syndrome
Very rare (1-4%)
Nestor Guillermo progeria syndrome
Frequent (30-79%)
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
Always present (100%)
Congenital pontocerebellar hypoplasia type 10
Always present (100%)
Quick Facts
- SNOMED CT
- 447739003
- UMLS CUI
- C3164501
- Fully Specified Name
- Mega cisterna magna (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.