HHAT

Graph & Charts

Patient Overview : 7

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/7
Female 57.1% 4/7
Indifferent 42.9% 3/7
Unknown 0% 0/7
General    
Birth Length abnormalities 28.6% 2/7
< P3 : Birth length less than 3rd percentile 28.6% 2/7
Birth Weight abnormalities 28.6% 2/7
< P3 : Small for gestational age 28.6% 2/7
Birth Head circumference abnormalities 42.9% 3/7
< P3 : Congenital microcephaly 42.9% 3/7
Current Height abnormalities 42.9% 3/7
< P3 : Short stature 42.9% 3/7
Current Weight abnormalities 14.3% 1/7
< P3 : Decreased body weight 14.3% 1/7
Current Head circumference abnormalities 100.0% 7/7
< P3 : Microcephaly 100.0% 7/7
Neurology    
Neurological abnormalities 71.4% 5/7
Hyperkinesis 57.1% 4/7
Dysarthria 14.3% 1/7
Focal seizures 14.3% 1/7
Generalized tonic-clonic seizures 14.3% 1/7
Microcephaly 14.3% 1/7
Muscular hypotonia 14.3% 1/7
Myotonia 14.3% 1/7
Brain abnormality 83.3% 5/6
Cerebellar vermis hypoplasia 50.0% 3/6
Abnormality of the fourth ventricle 16.7% 1/6
Abnormality of the corpus callosum 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 14.3% 1/7
Protruding ear 14.3% 1/7
Abnormality of the eye 85.7% 6/7
Upslanted palpebral fissure 57.1% 4/7
Anisocoria 14.3% 1/7
Hypoplasia of the iris 14.3% 1/7
Microphthalmia 14.3% 1/7
Optic atrophy 14.3% 1/7
Optic nerve coloboma 14.3% 1/7
Palpebral edema 14.3% 1/7
Abnormality of the nose 28.6% 2/7
Bulbous nose 14.3% 1/7
Long philtrum 14.3% 1/7
Short columella 14.3% 1/7
Abnormality of the mouth 28.6% 2/7
Mandibular prognathia 14.3% 1/7
Midface retrusion 14.3% 1/7
Misalignment of teeth 14.3% 1/7
Wide mouth 14.3% 1/7
Visual and hearing impairments    
Abnormal vision 50.0% 3/6
Microphthalmia 16.7% 1/6
Myopia 16.7% 1/6
Retinal pigment epithelial atrophy 16.7% 1/6
Urogenital    
Abnormality of the urogenital system 57.1% 4/7
Gonadal dysgenesis 42.9% 3/7
Sex reversal 42.9% 3/7
Abnormal external genitalia 28.6% 2/7
Abnormality of the epididymis 14.3% 1/7
Abnormality of the urethra 14.3% 1/7
Aplasia of the uterus 14.3% 1/7
Aplasia of the ovary 14.3% 1/7
Hypoplastic labia majora 14.3% 1/7
Hypoplastic labia minora 14.3% 1/7
Microphallus 14.3% 1/7
Primary amenorrhea 14.3% 1/7
Testicular dysgenesis 14.3% 1/7
Skeleton    
Skeletal abnormalities 85.7% 6/7
Brachydactyly syndrome 57.1% 4/7
Narrow iliac wings 57.1% 4/7
Enlarged epiphyses 42.9% 3/7
Bell-shaped thorax 28.6% 2/7
Enlarged metaphyses 28.6% 2/7
Nail dysplasia 28.6% 2/7
Short distal phalanx of finger 28.6% 2/7
Thin clavicles 28.6% 2/7
Trapezoidal shaped vertebral bodies 28.6% 2/7
Abnormality of skeletal maturation 14.3% 1/7
Abnormality of the metaphyses 14.3% 1/7
Abnormality of the vertebrae 14.3% 1/7
Abnormality of the femoral neck 14.3% 1/7
Broad metatarsal 14.3% 1/7
Capitate-hamate fusion 14.3% 1/7
Clinodactyly of the 5th finger 14.3% 1/7
Distal widening of metacarpals 14.3% 1/7
Joint laxity 14.3% 1/7
Micromelia 14.3% 1/7
Scoliosis 14.3% 1/7
Severe short stature 14.3% 1/7
Short phalanx of finger 14.3% 1/7
Short ribs 14.3% 1/7
Short long bone 14.3% 1/7
Spinal rigidity 14.3% 1/7
Spondylolisthesis at L5-S1 14.3% 1/7
Thin ribs 14.3% 1/7
Thin long bone diaphyses 14.3% 1/7
Type A brachydactyly 14.3% 1/7
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 28.6% 2/7
Hirsutism 14.3% 1/7
Multiple cafe-au-lait spots 14.3% 1/7
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 42.9% 3/7
Decreased serum testosterone level 14.3% 1/7
Hypergonadotropic hypogonadism 14.3% 1/7
Increased serum testosterone level 14.3% 1/7
Abnormality of the metabolic system 57.1% 4/7
Elevated serum creatine phosphokinase 57.1% 4/7
Hypercholesterolemia 14.3% 1/7
Neoplasia    
Neoplasia 14.3% 1/7
Testicular seminoma 14.3% 1/7