X-linked mental retardation with marfanoid habitus syndrome

disorder

SNOMED 422437002CUI C0796022

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.

Vertical enlargement of face

Always present (100%)HP:0000276

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Behavioral changes

Very frequent (80-99%)HP:0000708

Central hypotonia

Very frequent (80-99%)HP:0001252

Disproportionate tall stature

Very frequent (80-99%)HP:0001519

High arched palate

Very frequent (80-99%)HP:0000218

High forehead

Very frequent (80-99%)HP:0000348

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased size of skull

Very frequent (80-99%)HP:0000256

Nasal speech

Very frequent (80-99%)HP:0001611

Poor school performance

Very frequent (80-99%)HP:0001249

Scoliosis

Very frequent (80-99%)HP:0002650

Voice abnormality

Very frequent (80-99%)HP:0001608

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Accelerated linear growth

Frequent (30-79%)HP:0000098

Arachnodactyly

Frequent (30-79%)HP:0001166

Atria septal defect

Frequent (30-79%)HP:0001631

Broad thumbs

Frequent (30-79%)HP:0011304

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased transverse dimension of face

Frequent (30-79%)HP:0000275

Hyperextensible fingers

Frequent (30-79%)HP:0001187

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Large testis

Frequent (30-79%)HP:0000053

Loose-jointedness

Frequent (30-79%)HP:0001382

Narrow nose

Frequent (30-79%)HP:0000460

Pectus excavatum

Frequent (30-79%)HP:0000767

Prominent nasal root

Frequent (30-79%)HP:0000426

Slack jawed appearance

Frequent (30-79%)HP:0000194

Small upper jaw

Frequent (30-79%)HP:0000327

Related Conditions

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 422437002
UMLS CUI: C0796022
Fully Specified Name: X-linked intellectual disability with marfanoid habitus (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.