Overview
MINDS syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deep palmar creases
Always present (100%)HP:0006191
Deep wrinkles in soles of feet
Always present (100%)HP:0001869
High forehead
Always present (100%)HP:0000348
Small nose
Always present (100%)HP:0003196
Umbilical hernia
Always present (100%)HP:0001537
Big calvaria
Very frequent (80-99%)HP:0000256
Macrencephaly
Very frequent (80-99%)HP:0001355
Mental-retardation
Very frequent (80-99%)HP:0001249
Abnormal vocalization
Frequent (30-79%)HP:0002167
Cognitive delay
Frequent (30-79%)HP:0001263
Curly hair
Frequent (30-79%)HP:0002212
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Distortion of face
Frequent (30-79%)HP:0001999
Epilepsy
Frequent (30-79%)HP:0001250
Fetal macrosomia
Frequent (30-79%)HP:0001520
Focal seizures
Frequent (30-79%)HP:0007359
Frontal protuberance
Frequent (30-79%)HP:0002007
Generalised-onset seizure
Frequent (30-79%)HP:0002197
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Reduced cerebral white matter volume
Frequent (30-79%)HP:0034295
Specific learning disability
Frequent (30-79%)HP:0001328
Abdominal protuberance
Occasional (5-29%)HP:0001538
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Cafe-au-lait spots
Occasional (5-29%)HP:0000957
Capillary malformation
Occasional (5-29%)HP:0025104
Central hypotonia
Occasional (5-29%)HP:0001252
Corpus callosum abnormality
Occasional (5-29%)HP:0001273
Cryptorchidism
Occasional (5-29%)HP:0000028
Fallen arches
Occasional (5-29%)HP:0001763
Gait disturbance
Occasional (5-29%)HP:0001288
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital macrocephaly(parent)
Seizure disorder(parent)
Congenital anomaly of thorax(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Macroencephaly(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 1187304005
- UMLS CUI
- C4225259
- Fully Specified Name
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax 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.