AP1B1

Graph and Chart

Patient Overview : 11

General

Frequency of all clinical findings

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
Hyperkeratotic papule 9.1% 1/11
Hyperkeratosis 9.1% 1/11
Patchy alopecia 9.1% 1/11
Plantar hyperkeratosis 9.1% 1/11
Pruritus 9.1% 1/11
Sparse eyebrow 9.1% 1/11
Sparse scalp hair 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