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Familial aplasia of the vermis

disorder
SNOMED 253175003CUI C0431399

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Curvature of digit
Always present (100%)HP:0030084
Delay in head control
Always present (100%)HP:0002421
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to walk
Always present (100%)HP:0031936
Generalised decreased muscle tone
Always present (100%)HP:0001290
Kidney disease
Always present (100%)HP:0000112
Molar tooth sign
Always present (100%)HP:0002419
Speech and language difficulties
Always present (100%)HP:0000750
Abnormal respiratory patterns
Very frequent (80-99%)HP:0002793
Apnea
Very frequent (80-99%)HP:0002104
Ataxia
Very frequent (80-99%)HP:0001251
Central hypotonia
Very frequent (80-99%)HP:0001252
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Episodic tachypnea
Very frequent (80-99%)HP:0002876
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Oculomotor apraxia
Very frequent (80-99%)HP:0000657
Poor school performance
Very frequent (80-99%)HP:0001249
Decreased width of the skull
Frequent (30-79%)HP:0004422
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gait disturbance
Frequent (30-79%)HP:0001288
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Abnormality of neuronal migration
Occasional (5-29%)HP:0002269
Abnormality of the hypothalamus-pituitary axis
Occasional (5-29%)HP:0000864
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Bifid skull
Occasional (5-29%)HP:0002084
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650

Related Conditions

Joubert syndrome(child)
Aplasia of the vermis(parent)

Quick Facts

SNOMED CT
253175003
UMLS CUI
C0431399
Fully Specified Name
Familial aplasia of the vermis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.