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| Palmoplantar hyperkeratosis
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| Purpura
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| Bruising susceptibility
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| Wide nasal ridge
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| Broad jaw
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| Osteolytic defects of the distal phalanx of the 3rd finger
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| Hemihypertrophy of upper limb
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| Broad 3rd toe
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| Asymmetric growth
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| Hemiatrophy
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| Premature epimetaphyseal fusion in radius
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| Tendon rupture
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| Neoplasm of the trachea
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| Periorbital wrinkles
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| Abnormality of the uvea
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| Supranuclear gaze palsy
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| Cone-shaped epiphyses of the 2nd toe
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| Central scotoma
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| Ophthalmoplegia
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| Hypotelorism
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| Abnormality of the pharynx
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| Hemihypertrophy of lower limb
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| Abnormality of color vision
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| Optic nerve hypoplasia
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| Macular degeneration
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| Biliary hyperplasia
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| Lipid accumulation in hepatocytes
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| Viral hepatitis
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| Malformation of the hepatic ductal plate
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| Fluctuating hepatomegaly
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| Increased hepatocellular lipid droplets
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| Neonatal cholestatic liver disease
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| Increased hepatic glycogen content
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| Mode of inheritance
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| Narrow nasal base
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| Autosomal recessive inheritance
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| Uveitis
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| Absent epiphyses of the 2nd toe
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| Agenesis of cerebellar vermis
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| Bracket epiphyses of the 2nd toe
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| Club-shaped distal femur
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| Short lower limbs
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| Hypoplastic distal radial epiphyses
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| Wide distal femoral metaphysis
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| Knee flexion contracture
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| Rudimentary fibula
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| Delayed myelination
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| Progressive bowing of long bones
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| Low CSF 5-methyltetrahydrofolate
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| Abnormal myelination
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| Brain atrophy
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| Gallbladder dyskinesia
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| Limited knee flexion
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| Abnormal biliary tract morphology
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| Sphincter of Oddi dyskinesia
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| Limb muscle weakness
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| Sacral segmentation defects
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| Abnormality of the skull base
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| Large sella turcica
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| Corticospinal tract disease in lower limbs
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| Diffuse demyelination of the cerebral white matter
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| Paroxysmal dyskinesia
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| Periventricular gray matter heterotopia
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| Slowed slurred speech
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| Abnormal echocardiogram
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| Abnormality of the parietal bone
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| Abnormal cardiological findings
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| Abnormal EKG
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| Abnormality of serum amino acid levels
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| Hypochloremia
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| Abnormality of urine homeostasis
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| Distal amyotrophy
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| Premature anterior fontanel closure
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| Sclerosis of skull base
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| Symmetrical, oval parietal bone defects
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| Celiac disease
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| Hepatic necrosis
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| Gastrointestinal telangiectasia
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| Bowel incontinence
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| Paresis of extensor muscles of the big toe
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| Hyporeflexia of lower limbs
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| Multiple rows of eyelashes
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| Chronic bronchitis
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| Anomalous tracheal cartilage
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| Preauricular pit
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| Bipartite calcaneus
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| Talipes calcaneovarus
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| Postauricular pit
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| Calcaneonavicular fusion
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| Congenital earlobe sinuses
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| Abnormal muscle tone
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| Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
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| Hypoplastic sweat glands
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| Aplasia cutis congenita of scalp
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| Aberrant melanosome maturation
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| Congenital localized absence of skin
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| Rimmed vacuoles
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| Congenital exfoliative erythroderma
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| Facial telangiectasia
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| Congenital craniofacial dysostosis
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