X-linked intellectual disability Cilliers type

disorder

SNOMED 719013004CUI C4305024

Overview

X-linked intellectual disability Cilliers 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.

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Craniosynostosis of coronal suture

Very frequent (80-99%)HP:0004440

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased function of male gonad

Very frequent (80-99%)HP:0000026

Decreased testicular size

Very frequent (80-99%)HP:0008734

Decreased testosterone

Very frequent (80-99%)HP:0040171

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Distortion of face

Very frequent (80-99%)HP:0001999

Enophthalmos

Very frequent (80-99%)HP:0000490

Gonadotropin excess

Very frequent (80-99%)HP:0000837

Hyperplasia of supraorbital margins

Very frequent (80-99%)HP:0000336

Large ears

Very frequent (80-99%)HP:0000400

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Poor weight gain

Very frequent (80-99%)HP:0001508

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Retarded ossification

Very frequent (80-99%)HP:0002750

Small nail

Very frequent (80-99%)HP:0001792

Decreased size of cranium

Frequent (30-79%)HP:0000252

Hypospadias

Occasional (5-29%)HP:0000047

Paranoia

Occasional (5-29%)HP:0011999

Psychosis

Occasional (5-29%)HP:0000709

Shyness

Occasional (5-29%)HP:0100962

Related Conditions

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719013004
UMLS CUI: C4305024
Fully Specified Name: X-linked intellectual disability Cilliers type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.