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PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism
disorderSNOMED 702356009CUI C0796222
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Apnea
Always present (100%)HP:0002104
Apraxia
Always present (100%)HP:0002186
Atony of facial musculature
Always present (100%)HP:0000297
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Cognitive delay
Always present (100%)HP:0001263
Decreased size of cranium
Always present (100%)HP:0000252
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to walk
Always present (100%)HP:0031936
Disproportionately small hands
Always present (100%)HP:0200055
Dystonic disease
Always present (100%)HP:0001332
Flexion contractures
Always present (100%)HP:0001371
Head lag
Always present (100%)HP:0032988
Low intelligence
Always present (100%)HP:0001249
Mental retardation, mild
Always present (100%)HP:0001256
No speech development
Always present (100%)HP:0001344
Restlessness
Always present (100%)HP:0000711
Sialorrhea
Always present (100%)HP:0002307
Slowness of movements
Always present (100%)HP:0002067
Spastic paraplegia
Always present (100%)HP:0001258
Spastic quadriplegia
Always present (100%)HP:0002510
Speech delay
Always present (100%)HP:0000750
Truncal hypotonia
Always present (100%)HP:0008936
Wrist contracture
Always present (100%)HP:0001239
Aggression
Very frequent (80-99%)HP:0000718
Hyperactive deep tendon reflexes
Very frequent (80-99%)HP:0006801
hyperkinetic disorder
Very frequent (80-99%)HP:0000752
Irritable mood
Very frequent (80-99%)HP:0000737
Large testis
Very frequent (80-99%)HP:0000053
Seizures
Very frequent (80-99%)HP:0001250
Trouble sleeping
Very frequent (80-99%)HP:0002360
Related Conditions
Developmental delay(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)
X-linked dominant hereditary disease(parent)
Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder(parent)
Encephalomyeloneuropathy(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 702356009
- UMLS CUI
- C0796222
- Fully Specified Name
- X-linked intellectual disability-psychosis-macroorchidism syndrome (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.