HHAT
| 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 ovary | 14.3% | 1/7 |
| Aplasia of the uterus | 14.3% | 1/7 |
| Hypoplastic labia minora | 14.3% | 1/7 |
| Hypoplastic labia majora | 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 the vertebrae | 14.3% | 1/7 |
| Abnormality of the femoral neck | 14.3% | 1/7 |
| Abnormality of skeletal maturation | 14.3% | 1/7 |
| Abnormality of the metaphyses | 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 |