-
| Primary hypothyroidism
-
| Glucose intolerance
-
| Abnormality of the scapula
-
| Adrenal hypoplasia
-
| Hyperthyroidism
-
| Gonadotropin excess
-
| Pituitary dwarfism
-
| Infertility
-
| Carpal osteolysis
-
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger
-
| Aplasia of the 5th finger
-
| Os odontoideum
-
| Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal
-
| Short 5th finger
-
| Rhomboid or triangular shaped 5th finger proximal phalanx
-
| Patchy sclerosis of the proximal phalanx of the 5th finger
-
| Osteolytic defects of the proximal phalanx of the 5th finger
-
| Triangular shaped proximal phalanx of the 5th finger
-
| Symphalangism affecting the proximal phalanx of the 5th finger
-
| Massively thickened long bone cortices
-
| Falciform retinal fold
-
| Salmonella osteomyelitis
-
| Glossoptosis
-
| Abnormality of the oral cavity
-
| Narrow mouth
-
| Median cleft lip
-
| Severe periodontitis
-
| Abnormality of the teeth
-
| Abnormality of the gingiva
-
| Gingival fibromatosis
-
| Distal shortening of limbs
-
| Absent knee epiphyses
-
| Irregular distal femoral epiphysis
-
| Club-shaped proximal femur
-
| Triangular epiphyses of the thumb
-
| Progressive leg bowing
-
| Distal tapering femur
-
| Macrocytic dyserythropoietic anemia
-
| Biphenotypic acute leukaemia
-
| Decreased mean platelet volume
-
| Transient myeloproliferative syndrome
-
| Exercise-induced hemolysis
-
| T-cell chronic lymphocytic lymphoma/leukemia
-
| Absent urinary urothione
-
| Patchy sclerosis of the distal phalanx of the 4th toe
-
| 4-Hydroxyphenylacetic aciduria
-
| Increased retinal vascularity
-
| Absent retinal pigment epithelium
-
| Abnormal dense granule content
-
| Abnormal number of alpha granules
-
| Optic nerve aplasia
-
| Perivascular spaces
-
| Oral aversion
-
| Central tapetoretinal dystrophy
-
| Abnormal alpha granule distribution
-
| Abnormal platelet shape
-
| Abnormal alpha granule content
-
| Absence of alpha granules
-
| Episodic respiratory distress
-
| Congenital laryngeal stridor
-
| Congenital visual impairment
-
| Opacification of the corneal stroma
-
| Irregular loops and focal folding of myelin sheaths
-
| Facial paralysis
-
| Hemimegalencephaly
-
| Intraretinal exudate
-
| Slitlike anterior chamber angles in children
-
| Hypoplasia of choroid
-
| Hypoplasia of the fovea
-
| Episodic hypersomnia
-
| Respiratory infections in early life
-
| Granulovacuolar degeneration
-
| Neuronal loss in central nervous system
-
| Hypsarrhythmia
-
| Areflexia of lower limbs
-
| Cataplexy
-
| Deficit in nonword repetition
-
| Falls
-
| Three rows of eyelashes
-
| Progressive central visual loss
-
| Absent pigmentation of the abdomen
-
| Foveal hyperpigmentation
-
| Decreased corneal reflex
-
| Jerky ocular pursuit movements
-
| Abnormality of macular pigmentation
-
| Congenital corneal dystrophy
-
| Primary congenital glaucoma
-
| Ground glass opacity of humeral diaphysis
-
| Cortical thickening of humeral diaphysis
-
| Square humeral metaphysis
-
| Spurred humeral metaphysis
-
| Laterally sloping humeral metaphysis
-
| Sloping humeral metaphysis
-
| Cortical irregularity of humeral diaphysis
-
| Abnormality of the humeral diaphysis
-
| Stippled calcification of humeral metaphysis
-
| Enlarged epiphysis of the proximal phalanx of the 4th toe
-
| Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
-
| Irregular epiphysis of the proximal phalanx of the 4th toe
-
| T-cell lymphoma/leukemia
Handlinger tilknyttet webside