AP1B1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.5% | 6/11 |
| Female | 45.5% | 5/11 |
| Indifferent | 0% | 0/11 |
| Unknown | 0% | 0/11 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 12.5% | 1/8 |
| < P3 : Small for gestational age | 12.5% | 1/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 25.0% | 2/8 |
| < P3 : Short stature | 25.0% | 2/8 |
| Current Weight abnormalities | 12.5% | 1/8 |
| < P3 : Decreased body weight | 12.5% | 1/8 |
| Current Head circumference abnormalities | 12.5% | 1/8 |
| < P3 : Microcephaly | 12.5% | 1/8 |
| Neurology | ||
| Neurological abnormalities | 27.3% | 3/11 |
| Brisk reflexes | 9.1% | 1/11 |
| Febrile seizures | 9.1% | 1/11 |
| Peripheral neuropathy | 9.1% | 1/11 |
| Tremor | 9.1% | 1/11 |
| Brain abnormality | 33.3% | 2/6 |
| Cerebral atrophy | 33.3% | 2/6 |
| Asymmetric ventricles | 16.7% | 1/6 |
| Hypoplasia of the corpus callosum | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 9.1% | 1/11 |
| Low-set ears | 9.1% | 1/11 |
| Uplifted earlobe | 9.1% | 1/11 |
| Abnormality of the eye | 36.4% | 4/11 |
| Ectropion | 27.3% | 3/11 |
| Short palpebral fissure | 9.1% | 1/11 |
| Unilateral ptosis | 9.1% | 1/11 |
| Abnormality of the mouth | 36.4% | 4/11 |
| Cleft soft palate | 9.1% | 1/11 |
| Hypocalcification of dental enamel | 9.1% | 1/11 |
| Lower lip pit | 9.1% | 1/11 |
| Narrow mouth | 9.1% | 1/11 |
| Premature loss of teeth | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 11/11 |
| Hearing impairment | 63.6% | 7/11 |
| Bilateral sensorineural hearing impairment | 18.2% | 2/11 |
| Congenital sensorineural hearing impairment | 9.1% | 1/11 |
| Profound hearing impairment | 9.1% | 1/11 |
| Abnormal vision | 45.5% | 5/11 |
| Photophobia | 36.4% | 4/11 |
| Congenital nystagmus | 9.1% | 1/11 |
| Corneal scarring | 9.1% | 1/11 |
| Esotropia | 9.1% | 1/11 |
| Hyperopic astigmatism | 9.1% | 1/11 |
| Severe Myopia | 9.1% | 1/11 |
| Visual loss | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 72.7% | 8/11 |
| Abnormality of the intestine | 45.5% | 5/11 |
| Decreased liver function | 36.4% | 4/11 |
| Chronic diarrhea | 18.2% | 2/11 |
| Hepatomegaly | 18.2% | 2/11 |
| Celiac disease | 9.1% | 1/11 |
| Gastrostomy tube feeding in infancy | 9.1% | 1/11 |
| Intussusception | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 9.1% | 1/11 |
| Bilateral cryptorchidism | 9.1% | 1/11 |
| Scrotal hypoplasia | 9.1% | 1/11 |
| Skeleton | ||
| Skeletal abnormalities | 9.1% | 1/11 |
| Wide anterior fontanel | 9.1% | 1/11 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 11/11 |
| Erythroderma | 72.7% | 8/11 |
| Ichthyosis | 45.5% | 5/11 |
| Palmoplantar keratoderma | 45.5% | 5/11 |
| Sparse hair | 45.5% | 5/11 |
| Generalized ichthyosis | 36.4% | 4/11 |
| Abnormality of hair texture | 18.2% | 2/11 |
| Alopecia | 18.2% | 2/11 |
| Postnatal-onset ichthyosiform erythroderma | 18.2% | 2/11 |
| Anhidrosis | 9.1% | 1/11 |
| Dystrophic toenail | 9.1% | 1/11 |
| Erythema | 9.1% | 1/11 |
| Hyperkeratosis | 9.1% | 1/11 |
| Hyperkeratotic papule | 9.1% | 1/11 |
| Patchy alopecia | 9.1% | 1/11 |
| Plantar hyperkeratosis | 9.1% | 1/11 |
| Pruritus | 9.1% | 1/11 |
| Sparse scalp hair | 9.1% | 1/11 |
| Sparse eyebrow | 9.1% | 1/11 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.1% | 1/11 |
| Hypothyroidism | 9.1% | 1/11 |
| Thyroid-stimulating hormone excess | 9.1% | 1/11 |
| Abnormality of the metabolic system | 63.6% | 7/11 |
| Decreased serum ceruloplasmin | 63.6% | 7/11 |
| Hypocupremia | 36.4% | 4/11 |
| Abnormality of copper homeostasis | 27.3% | 3/11 |
| Elevated alkaline phosphatase | 9.1% | 1/11 |
| Abnormality of the immune system | 27.3% | 3/11 |
| Onychomycosis | 9.1% | 1/11 |
| Recurrent infections | 9.1% | 1/11 |
| Respiratory infections in early life | 9.1% | 1/11 |