X-linked intellectual disability Nascimento type

disorder

SNOMED 726732002CUI C4512071

Overview

X-linked intellectual disability Nascimento type 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.

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Dry skin

Very frequent (80-99%)HP:0000958

Large mouth

Very frequent (80-99%)HP:0000154

Poor speech

Very frequent (80-99%)HP:0002465

Rounded columella

Very frequent (80-99%)HP:0009765

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Aggression

Frequent (30-79%)HP:0000718

Big calvaria

Frequent (30-79%)HP:0000256

Broad neck

Frequent (30-79%)HP:0000475

Cavus foot

Frequent (30-79%)HP:0001761

Chronic constipation

Frequent (30-79%)HP:0012450

Concave bridge of nose

Frequent (30-79%)HP:0005280

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Echologia

Frequent (30-79%)HP:0010529

Epilepsy

Frequent (30-79%)HP:0001250

Generalized hirsutism

Frequent (30-79%)HP:0002230

Hyperbilirubinemia, neonatal

Frequent (30-79%)HP:0003265

Hypointensity of cerebral white matter on MRI

Frequent (30-79%)HP:0007103

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low posterior hair line

Frequent (30-79%)HP:0002162

Mental retardation, severe

Frequent (30-79%)HP:0010864

Mongoloid slant

Frequent (30-79%)HP:0000582

Short penis

Frequent (30-79%)HP:0000054

Small feet

Frequent (30-79%)HP:0001773

Unibrow

Frequent (30-79%)HP:0000664

VSD

Frequent (30-79%)HP:0001629

VUR

Frequent (30-79%)HP:0000076

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Abnormal hair whorl

Occasional (5-29%)HP:0010721

Related Conditions

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

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 726732002
UMLS CUI: C4512071
Fully Specified Name: X-linked intellectual disability Nascimento type (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.