HHAT

Graph & Charts

Patient Overview : 6

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/6
Female 66.7% 4/6
Indifferent 33.3% 2/6
Unknown 0% 0/6
Neurology    
Neurological abnormalities 83.3% 5/6
Hyperkinesis 66.7% 4/6
Dysarthria 16.7% 1/6
Focal seizures 16.7% 1/6
Generalized tonic-clonic seizures 16.7% 1/6
Microcephaly 16.7% 1/6
Muscular hypotonia 16.7% 1/6
Myotonia 16.7% 1/6
Brain abnormality 83.3% 5/6
Cerebellar vermis hypoplasia 50.0% 3/6
Abnormality of the corpus callosum 16.7% 1/6
Abnormality of the fourth ventricle 16.7% 1/6
Cerebellar gliosis 16.7% 1/6
Cortical gyral simplification 16.7% 1/6
Enlarged cisterna magna 16.7% 1/6
Transient ischemic attack 16.7% 1/6
Facial abnormalities    
Abnormality of the ear 16.7% 1/6
Protruding ear 16.7% 1/6
Abnormality of the eye 100.0% 6/6
Upslanted palpebral fissure 66.7% 4/6
Anisocoria 16.7% 1/6
Hypoplasia of the iris 16.7% 1/6
Microphthalmia 16.7% 1/6
Optic atrophy 16.7% 1/6
Optic nerve coloboma 16.7% 1/6
Palpebral edema 16.7% 1/6
Abnormality of the nose 33.3% 2/6
Bulbous nose 16.7% 1/6
Long philtrum 16.7% 1/6
Short columella 16.7% 1/6
Abnormality of the mouth 33.3% 2/6
Mandibular prognathia 16.7% 1/6
Midface retrusion 16.7% 1/6
Misalignment of teeth 16.7% 1/6
Wide mouth 16.7% 1/6
Visual and hearing impairments    
Abnormal vision 60.0% 3/5
Microphthalmia 20.0% 1/5
Myopia 20.0% 1/5
Retinal pigment epithelial atrophy 20.0% 1/5
Urogenital    
Abnormality of the urogenital system 50.0% 3/6
Sex reversal 50.0% 3/6
Gonadal dysgenesis 33.3% 2/6
Abnormal external genitalia 16.7% 1/6
Abnormality of the epididymis 16.7% 1/6
Aplasia of the ovary 16.7% 1/6
Aplasia of the uterus 16.7% 1/6
Hypoplastic labia majora 16.7% 1/6
Hypoplastic labia minora 16.7% 1/6
Microphallus 16.7% 1/6
Primary amenorrhea 16.7% 1/6
Testicular dysgenesis 16.7% 1/6
Skeleton    
Skeletal abnormalities 100.0% 6/6
Brachydactyly syndrome 66.7% 4/6
Narrow iliac wings 66.7% 4/6
Enlarged epiphyses 50.0% 3/6
Bell-shaped thorax 33.3% 2/6
Enlarged metaphyses 33.3% 2/6
Nail dysplasia 33.3% 2/6
Short distal phalanx of finger 33.3% 2/6
Thin clavicles 33.3% 2/6
Trapezoidal shaped vertebral bodies 33.3% 2/6
Abnormality of skeletal maturation 16.7% 1/6
Abnormality of the metaphyses 16.7% 1/6
Abnormality of the femoral neck 16.7% 1/6
Abnormality of the vertebrae 16.7% 1/6
Broad metatarsal 16.7% 1/6
Capitate-hamate fusion 16.7% 1/6
Clinodactyly of the 5th finger 16.7% 1/6
Distal widening of metacarpals 16.7% 1/6
Joint laxity 16.7% 1/6
Micromelia 16.7% 1/6
Scoliosis 16.7% 1/6
Severe short stature 16.7% 1/6
Short long bone 16.7% 1/6
Short phalanx of finger 16.7% 1/6
Short ribs 16.7% 1/6
Spinal rigidity 16.7% 1/6
Spondylolisthesis at L5-S1 16.7% 1/6
Thin long bone diaphyses 16.7% 1/6
Thin ribs 16.7% 1/6
Type A brachydactyly 16.7% 1/6
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 16.7% 1/6
Hirsutism 16.7% 1/6
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 33.3% 2/6
Hypergonadotropic hypogonadism 16.7% 1/6
Increased serum testosterone level 16.7% 1/6
Abnormality of the metabolic system 66.7% 4/6
Elevated serum creatine phosphokinase 66.7% 4/6
Hypercholesterolemia 16.7% 1/6
Neoplasia    
Neoplasia 16.7% 1/6
Testicular seminoma 16.7% 1/6