Deafness and intellectual disability Martin Probst type syndrome

disorder

SNOMED 721087008CUI C1845285

Overview

Deafness and intellectual disability Martin Probst type 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.

Hypoplastic nipples

Always present (100%)HP:0002557

Abnormal dermatoglyphics

Very frequent (80-99%)HP:0007477

Aplasia/Hypoplasia of the nipples

Very frequent (80-99%)HP:0006709

Bilateral crossbite

Very frequent (80-99%)HP:0000689

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Large mouth

Very frequent (80-99%)HP:0000154

Low-set ears

Very frequent (80-99%)HP:0000369

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Tooth abnormalities

Very frequent (80-99%)HP:0000164

Umbilical hernia

Very frequent (80-99%)HP:0001537

Wide-spaced nipples

Very frequent (80-99%)HP:0006610

Blepharophimosis

Frequent (30-79%)HP:0000581

Cataract

Frequent (30-79%)HP:0000518

Chordee

Frequent (30-79%)HP:0000041

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dysplastic kidneys

Frequent (30-79%)HP:0000110

Eclabium of lower lip

Frequent (30-79%)HP:0000232

Full lower lip

Frequent (30-79%)HP:0000179

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypothyroidism

Frequent (30-79%)HP:0000821

Increased distance between eyes

Frequent (30-79%)HP:0000316

Narrow eyelid opening

Frequent (30-79%)HP:0045025

Near sighted

Frequent (30-79%)HP:0000545

Related Conditions

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

Bilateral hearing loss(parent)

Hearing loss associated with syndrome(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Congenital sensorineural hearing loss(parent)

X-linked sensorineural hearing loss(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 721087008
UMLS CUI: C1845285
Fully Specified Name: Deafness and intellectual disability Martin Probst type syndrome (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.