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Septo-optic dysplasia sequence

disorder
SNOMED 7611002CUI C0338503

Overview

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

Clinical Trials

1
Total Trials
0
Recruiting
1
With Results

Recent Trials

Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia

NCT00140413Phase 4Completed20 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

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

De Morsier syndrome
Very frequent (80-99%)HP:0100842
Hypoplastic optic nerves
Very frequent (80-99%)HP:0000609
Poor vision
Very frequent (80-99%)HP:0000505
Abnormality of the hypothalamus-pituitary axis
Frequent (30-79%)HP:0000864
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Cleft of palate
Frequent (30-79%)HP:0000175
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Hypoplasia of the pituitary gland
Frequent (30-79%)HP:0010627
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Seizures
Frequent (30-79%)HP:0001250
Squint
Frequent (30-79%)HP:0000486
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Autism
Occasional (5-29%)HP:0000717
Cerebellar hypoplasia/atrophy
Occasional (5-29%)HP:0007360
Cognitive delay
Occasional (5-29%)HP:0001263
Diabetes insipidus
Occasional (5-29%)HP:0000873
Dyschezia
Occasional (5-29%)HP:0002019
Esophageal atresia
Occasional (5-29%)HP:0002032
Extreme thirst
Occasional (5-29%)HP:0001959
Hypohidrosis
Occasional (5-29%)HP:0000966
Lost smell
Occasional (5-29%)HP:0000458
Obesity
Occasional (5-29%)HP:0001513
Poor school performance
Occasional (5-29%)HP:0001249
Sensorineural deafness
Occasional (5-29%)HP:0000407
Tiredness
Occasional (5-29%)HP:0012378
Tracheoesophageal fistula
Occasional (5-29%)HP:0002575

Related Conditions

Hypopituitarism(parent)
Hypoplasia of optic disc(parent)
Congenital hypoplasia of cerebrum(parent)
Congenital anomaly of pituitary gland(parent)
Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT
7611002
UMLS CUI
C0338503
Fully Specified Name
Septo-optic dysplasia sequence (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
1
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.