Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome

disorder

SNOMED 773665006CUI C4751123

Overview

Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism 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.

Abnormal optic disc morphology

Very frequent (80-99%)HP:0012795

Bilateral congenital sensorineural deafness

Very frequent (80-99%)HP:0008527

Broad big toe

Very frequent (80-99%)HP:0010055

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased amniotic fluid index

Very frequent (80-99%)HP:0001562

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased testicular size

Very frequent (80-99%)HP:0008734

Delayed puberty

Very frequent (80-99%)HP:0000823

Epilepsy

Very frequent (80-99%)HP:0001250

Feeding difficulties

Very frequent (80-99%)HP:0011968

Gynaecomastia

Very frequent (80-99%)HP:0000771

Hooked nose

Very frequent (80-99%)HP:0000444

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Low gonadotropins (secondary hypogonadism)

Very frequent (80-99%)HP:0000044

Marked delay in bone age

Very frequent (80-99%)HP:0003799

Marked growth retardation

Very frequent (80-99%)HP:0008850

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Microcytic anemia

Very frequent (80-99%)HP:0001935

Moderate intrauterine growth retardation

Very frequent (80-99%)HP:0011408

Near sighted

Very frequent (80-99%)HP:0000545

Night blindness, congenital stationary, complete

Very frequent (80-99%)HP:0007642

No development of motor milestones

Very frequent (80-99%)HP:0001270

Partial loss of field of vision

Very frequent (80-99%)HP:0001123

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Prominent ear

Very frequent (80-99%)HP:0000411

Psychomotor retardation, moderate

Very frequent (80-99%)HP:0011343

Retarded ossification

Very frequent (80-99%)HP:0002750

Short penis

Very frequent (80-99%)HP:0000054

Related Conditions

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

Small stature(parent)

Congenital sensorineural hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of endocrine system(parent)

Congenital hypogonadotropic hypogonadism(parent)

Reproductive system hereditary disorder(parent)

Disorder of ear(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 773665006
UMLS CUI: C4751123
Fully Specified Name: Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism 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.