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Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

disorder
SNOMED 722380003CUI C0796037

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.

Abnormally small eyeball
Always present (100%)HP:0000568
Clonus
Always present (100%)HP:0002169
Cognitive delay
Always present (100%)HP:0001263
Congenital cataracts, bilateral
Always present (100%)HP:0000519
Deficiency of upper jaw bones
Always present (100%)HP:0000327
Delayed ability to sit
Always present (100%)HP:0025336
Delayed ability to walk
Always present (100%)HP:0031936
Enlarged lateral sulcus
Always present (100%)HP:0100952
Fallen arches
Always present (100%)HP:0001763
Feeding difficulties in infancy
Always present (100%)HP:0008872
Finger joint hypermobility
Always present (100%)HP:0006094
Increased length of philtrum
Always present (100%)HP:0000343
Low-set ears
Always present (100%)HP:0000369
Mental retardation, severe
Always present (100%)HP:0010864
Osteonecrosis of the femoral head
Always present (100%)HP:0005743
Periventricular white matter hyperintensities
Always present (100%)HP:0030891
Reduced tendon reflexes
Always present (100%)HP:0001315
Severe psychomotor retardation
Always present (100%)HP:0011344
Short penis
Always present (100%)HP:0000054
Spastic diparesis
Always present (100%)HP:0001264
Speech difficulties
Always present (100%)HP:0000750
Talipes valgus
Always present (100%)HP:0004684
Thoracic scoliosis
Always present (100%)HP:0002943
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dull intelligence
Very frequent (80-99%)HP:0001249
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Lens opacities
Very frequent (80-99%)HP:0000518

Related Conditions

Congenital cataract(parent)
Hereditary disorder of endocrine system(parent)
Congenital hypogonadotropic hypogonadism(parent)
Congenital malformation of anterior pituitary(parent)
Congenital anomaly of endocrine gonad(parent)
RAB18, member RAS oncogene family deficiency(parent)

Quick Facts

SNOMED CT
722380003
UMLS CUI
C0796037
Fully Specified Name
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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.