Microcephalic cortical malformations, short stature due to rotatin deficiency

disorder

SNOMED 1187195007CUI C3553831

Overview

Microcephalic cortical malformations, short stature due to rotatin deficiency 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.

Decreased body height

Always present (100%)HP:0004322

Electroencephalogram abnormal

Always present (100%)HP:0002353

Weight less than 3rd percentile

Always present (100%)HP:0004325

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Distortion of face

Very frequent (80-99%)HP:0001999

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Flexion contractures

Frequent (30-79%)HP:0001371

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Mental retardation, severe

Frequent (30-79%)HP:0010864

More grooves in brain

Frequent (30-79%)HP:0002126

Multiple joint contractures

Frequent (30-79%)HP:0002828

Poor speech

Frequent (30-79%)HP:0002465

Severe weight faltering

Frequent (30-79%)HP:0001525

Short stature, severe

Frequent (30-79%)HP:0003510

Sloping forehead

Frequent (30-79%)HP:0000340

Small for gestational age infant

Frequent (30-79%)HP:0001511

4-5 finger cutaneous syndactyly

Occasional (5-29%)HP:0010705

Abnormal occipital bone morphology

Occasional (5-29%)HP:0012294

Abnormal renal collecting system morphology

Occasional (5-29%)HP:0004742

Abnormality of the orbital region

Occasional (5-29%)HP:0000315

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Abnormally small eyeball on both sides

Occasional (5-29%)HP:0007633

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Ankle flexion contracture

Occasional (5-29%)HP:0006466

Attenuation of retinal blood vessels

Occasional (5-29%)HP:0007843

Autoagression

Occasional (5-29%)HP:0100716

Bilateral nerve deafness

Occasional (5-29%)HP:0008619

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Cerebral pachygyria

Occasional (5-29%)HP:0001302

Convex bridge of nose

Occasional (5-29%)HP:0000426

Related Conditions

Congenital microcephalus(parent)

Global developmental delay(parent)

Primordial dwarfism(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of cerebrum(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Abnormal cerebral cortex morphology(parent)

Quick Facts

SNOMED CT: 1187195007
UMLS CUI: C3553831
Fully Specified Name: Microcephalic cortical malformations, short stature due to rotatin deficiency (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.