Hyperphosphatasemia with mental retardation

disorder

SNOMED 33982008CUI C1855923

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated alkaline phosphatase

Very frequent (80-99%)HP:0003155

Epilepsy

Very frequent (80-99%)HP:0001250

Hypotonia, early

Very frequent (80-99%)HP:0008947

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Shortening of all outermost bones of the fingers

Very frequent (80-99%)HP:0006118

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Funny looking face

Frequent (30-79%)HP:0001999

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Mental deficiency

Frequent (30-79%)HP:0001249

Poor growth

Frequent (30-79%)HP:0001510

Tented upper lip

Frequent (30-79%)HP:0010804

Wide palpebral fissure

Frequent (30-79%)HP:0000637

2 vessel cord

Occasional (5-29%)HP:0001195

Abnormal parietal bone morphology

Occasional (5-29%)HP:0002696

Accessory nipples

Occasional (5-29%)HP:0002558

Aganglionic megacolon

Occasional (5-29%)HP:0002251

Anteriorly displaced anus

Occasional (5-29%)HP:0001545

Ataxia

Occasional (5-29%)HP:0001251

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Cerebral hypomyelination

Occasional (5-29%)HP:0006808

Coarse face

Occasional (5-29%)HP:0000280

Curvature of digit

Occasional (5-29%)HP:0030084

Decreased head circumference

Occasional (5-29%)HP:0040195

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Developmental dysplasia of the hip

Occasional (5-29%)HP:0001385

EEG with spike-wave complexes

Occasional (5-29%)HP:0010850

EEG: spike and multispike waves, 3-4 hz

Occasional (5-29%)HP:0002392

Related Conditions

Disorder of phosphorus metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 33982008
UMLS CUI: C1855923
Fully Specified Name: Hyperphosphatasemia with intellectual disability (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.