-
| Hepatic periportal necrosis
-
| Hypotension
-
| Varicose veins
-
| Multiple plantar creases
-
| Plantar flexion contractures
-
| Broad distal hallux
-
| Equinovarus deformity
-
| Shortening of the talar neck
-
| Flexion limitation of toes
-
| Clinodactyly of the 3rd toe
-
| Metatarsal diaphyseal endosteal sclerosis
-
| Persistent open anterior fontanelle
-
| Deformed tarsal bones
-
| Atretic occipital cephalocele
-
| Aplasia cutis congenita over the scalp vertex
-
| Mandibular hyperostosis
-
| Difficulty standing
-
| Pseudarthrosis (humeral)
-
| Periosteal new bone (humeral)
-
| Impaired tactile sensation
-
| Lytic defects (humeral)
-
| Humerus varus
-
| Early cutaneous photosensitivity
-
| Axillary apocrine gland hypoplasia
-
| Hyperkeratosis with erythema
-
| Crumpled humerus
-
| Excessive wrinkled skin
-
| Exostoses (humeral)
-
| Triangular epiphysis of the proximal phalanx of the 2nd toe
-
| Abnormality of pain sensation
-
| Abnormality of the pubic hair
-
| Dissociated sensory loss
-
| Trophic changes related to pain
-
| Stippling of the epiphysis of the proximal phalanx of the 2nd toe
-
| Decreased serum ceruloplasmin
-
| Bracket epiphysis of the distal phalanx of the 3rd toe
-
| Abnormality of copper homeostasis
-
| Cone-shaped epiphysis of the distal phalanx of the 3rd toe
-
| Sandwich appearance of vertebral bodies
-
| Lumbar kyphoscoliosis
-
| Slender middle phalanx of finger
-
| Abnormality of the occipital bone
-
| Abnormal genital pigmentation
-
| Fusion of gums
-
| Tracheal neoplasm
-
| Mouth neoplasm
-
| Lumbar spinal canal stenosis
-
| Anterior concavity of thoracic vertebrae
-
| cervical spine segmentation defects
-
| Absent epiphysis of the distal phalanx of the 3rd toe
-
| spina bifida occulta at S1
-
| Cleft vertebral arch
-
| Butterfly vertebral arch
-
| Short proximal phalanx of toe
-
| Hypersegmentation of proximal phalanx of third finger
-
| Decreased activity of mitochondrial complex III
-
| Decreased activity of mitochondrial ATP synthase complex
-
| Proximal placement of hallux
-
| Short digit
-
| Transudative pleural effusion
-
| Exudative pleural effusion
-
| Abnormal activity of mitochondrial respiratory chain
-
| Decreased activity of mitochondrial complex I
-
| Triangular shaped distal phalanx of the thumb
-
| Aplasia of the distal phalanx of the thumb
-
| Curved distal phalanx of the thumb
-
| Osteolytic defect of the distal phalanx of the thumb
-
| Patchy sclerosis of the distal phalanx of the thumb
-
| Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal
-
| Aplasia/Hypoplasia of the distal phalanx of the thumb
-
| Broad distal phalanx of the thumb
-
| Bullet-shaped distal phalanx of the thumb
-
| Central retinal exudate
-
| Atretic lacrimal punctum
-
| Nodular corneal dystrophy
-
| Total ophthalmoplegia
-
| Cataracts develop in second or third decade
-
| Diffuse retinal cone degeneration
-
| Deviation of the 2nd finger
-
| Irregular phalanges
-
| Irregular epiphyses of the 4th finger
-
| Ivory epiphyses of the 4th finger
-
| Chondritis of pinna
-
| Triangular epiphyses of the 5th finger
-
| Absent epiphyses of the 4th finger
-
| Small epiphyses of the 5th finger
-
| Stippling of the epiphyses of the 5th finger
-
| Enlarged epiphyses of the 4th finger
-
| Partial fusion of carpals
-
| Bracket epiphyses of the 4th finger
-
| Cone-shaped epiphyses of the 4th finger
-
| Sclerosis of the distal phalanx of the 5th toe
-
| Early balding
-
| Pili canaliculi
-
| Aplasia/Hypoplasia of the 3rd metacarpal
-
| Short 2nd metacarpal
-
| Frontal upsweep of hair
-
| Patchy sclerosis of the 1st metacarpal
-
| Osteolytic defects of the 1st metacarpal
-
| Triangular shaped 1st metacarpal
Handlinger tilknyttet webside