X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome

disorder

SNOMED 719140001CUI C4304934

Overview

X-linked intellectual disability with dysmorphism and cerebral atrophy 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.

Abnormal fundus morphology

Frequent (30-79%)HP:0001098

Abnormal number of incisors

Frequent (30-79%)HP:0011064

Bilateral clubfeet

Frequent (30-79%)HP:0001776

Coxa valga deformity

Frequent (30-79%)HP:0002673

Cryptorchidism

Frequent (30-79%)HP:0000028

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Eyelid ptosis

Frequent (30-79%)HP:0000508

Finger clinodactyly

Frequent (30-79%)HP:0040019

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High forehead

Frequent (30-79%)HP:0000348

Increased distance between eyes

Frequent (30-79%)HP:0000316

Inguinal hernia

Frequent (30-79%)HP:0000023

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Large nose

Frequent (30-79%)HP:0000448

Low-set ears

Frequent (30-79%)HP:0000369

Osteoporosis

Frequent (30-79%)HP:0000939

Palpebronasal fold

Frequent (30-79%)HP:0000286

Poor school performance

Frequent (30-79%)HP:0001249

Retrognathia

Frequent (30-79%)HP:0000278

Skin dimples

Frequent (30-79%)HP:0010781

Squint

Frequent (30-79%)HP:0000486

Subluxation of patella

Frequent (30-79%)HP:0010499

Supernumerary ribs

Frequent (30-79%)HP:0005815

Related Conditions

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

Cerebral atrophy(parent)

Hereditary degenerative disease of central nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719140001
UMLS CUI: C4304934
Fully Specified Name: X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.