Intellectual disability, balding, patella luxation, acromicria syndrome

disorder

SNOMED 722002002CUI C1866985

Overview

Intellectual disability, balding, patella luxation, acromicria 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.

Acromesomelia

Very frequent (80-99%)HP:0003086

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Deformity of face

Very frequent (80-99%)HP:0001999

Early balding

Very frequent (80-99%)HP:0002234

Eclabium of lower lip

Very frequent (80-99%)HP:0000232

Enophthalmos

Very frequent (80-99%)HP:0000490

High forehead

Very frequent (80-99%)HP:0000348

Male pattern baldness

Very frequent (80-99%)HP:0002292

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Mongoloid slant

Very frequent (80-99%)HP:0000582

Blue irides

Frequent (30-79%)HP:0000635

Bulbous nasal tip

Frequent (30-79%)HP:0000414

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased muscle mass

Frequent (30-79%)HP:0003199

Decreased testicular size

Frequent (30-79%)HP:0008734

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Hypogenitalism

Frequent (30-79%)HP:0003241

Hypotonia, early

Frequent (30-79%)HP:0008947

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Patellar hypoplasia

Frequent (30-79%)HP:0003065

Reduced subcutaneous adipose tissue

Frequent (30-79%)HP:0003758

Seizures

Frequent (30-79%)HP:0001250

Subluxation of patella

Frequent (30-79%)HP:0010499

Unsteady walk

Frequent (30-79%)HP:0002317

Abnormal antihelix morphology

Occasional (5-29%)HP:0009738

Bulging forehead

Occasional (5-29%)HP:0011220

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Dysmetria

Occasional (5-29%)HP:0001310

Feeding difficulties

Occasional (5-29%)HP:0011968

Related Conditions

Congenital alopecia(parent)

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

Hypogonadism(parent)

Skeletal dysplasia(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Congenital dysplasia of limb(parent)

Genetic intellectual disability(parent)

Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT: 722002002
UMLS CUI: C1866985
Fully Specified Name: Intellectual disability, balding, patella luxation, acromicria 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.