HHAT
| 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 |