X-linked intellectual disability Armfield type

disorder

SNOMED 719017003CUI C4305022

Overview

X-linked intellectual disability Armfield 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Epilepsy

Very frequent (80-99%)HP:0001250

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Small feet

Very frequent (80-99%)HP:0001773

Cataract

Frequent (30-79%)HP:0000518

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased projection of midface

Frequent (30-79%)HP:0011800

Glaucoma

Frequent (30-79%)HP:0000501

Inguinal hernia

Frequent (30-79%)HP:0000023

Large pinnae

Frequent (30-79%)HP:0000400

Abnormality of the elbow

Occasional (5-29%)HP:0009811

Aminoaciduria

Occasional (5-29%)HP:0003355

Big calvaria

Occasional (5-29%)HP:0000256

Capillary hemangioma

Occasional (5-29%)HP:0005306

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Cryptorchidism

Occasional (5-29%)HP:0000028

Depressed nasal root/bridge

Occasional (5-29%)HP:0005280

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Facial capillary hemangioma

Occasional (5-29%)HP:0000996

Galactosuria

Occasional (5-29%)HP:0012023

Heart septal defect

Occasional (5-29%)HP:0001671

Hypertrophy of mandible

Occasional (5-29%)HP:0000303

Related Conditions

Congenital malformation syndrome(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719017003
UMLS CUI: C4305022
Fully Specified Name: X-linked intellectual disability Armfield 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.