-
| Absent neutrophil specific granules
-
| Scalp hair loss
-
| Increased neutrophil nuclear projections
-
| Metabolic alkalosis
-
| Hypoplastic thumbnail
-
| Recurrent upper and lower respiratory tract infections
-
| Transient global amnesia
-
| Sleep apnea
-
| Central sleep apnea
-
| Wide cranial sutures
-
| Palatal myoclonus
-
| Spinal myoclonus
-
| Paroxysmal vertigo
-
| Spasmus nutans
-
| Absent stapes head
-
| Small sella turcica
-
| Thin calvarium
-
| Aphalangy of hands and feet
-
| Abnormality of the xiphoid process
-
| Dandy-Walker malformation
-
| Torsion dystonia
-
| Chronic sensorineural polyneuropathy
-
| Parkinsonism
-
| Pachygyria
-
| Tongue fasciculations
-
| Cryoglobulinemia
-
| Urogenital sinus anomaly
-
| Hyperostosis
-
| Dural ectasia
-
| Recurrent pharyngitis
-
| Exostoses
-
| Hyperperistalsis
-
| Hypoperistalsis
-
| Cartilage destruction
-
| Absent sternal ossification
-
| Costochondral joint sclerosis
-
| Multifocal breast carcinoma
-
| Broad xiphoid process
-
| Hand polydactyly
-
| Abnormality of the metacarpal bones
-
| Postaxial hand polydactyly
-
| Abnormality of finger
-
| Arachnodactyly
-
| Broad palm
-
| Dysuria
-
| Anuria
-
| Primary central nervous system lymphoma
-
| Vitamin C deficiency
-
| Abnormality of vitamin D metabolism
-
| Vitamin D deficiency
-
| Vitamin E deficiency
-
| Abnormality of vitamin E metabolism
-
| Pollakisuria
-
| Neoplasm of the ureter
-
| Neoplasm of the urethra
-
| Mutism
-
| Hypoplasia of the primary teeth
-
| Premature eruption of permanent teeth
-
| Short dental roots
-
| Akinesia
-
| Athetosis
-
| Crowded maxillary incisors
-
| Supernumerary maxillary incisor
-
| Arnold-Chiari malformation
-
| Conical mandibular incisor
-
| Malformation of mandibular premolar
-
| Severe conductive hearing impairment
-
| Primitive neuroectodermal tumor
-
| Generalized bronze hyperpigmentation
-
| Palmar neurofibromas
-
| Hyperkeratosis lenticularis perstans
-
| Hyperpigmented streaks
-
| Late onset atopic dermatitis
-
| Abnormality of the middle phalanx of the 4th finger
-
| Abnormal ossification of the trapezoid bone
-
| Abnormality of neural tube closure
-
| Absent ossification of the trapezium
-
| Abnormal ossification of the scaphoid
-
| Profound hearing impairment
-
| Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
-
| Ethylmalonic aciduria
-
| Oroticaciduria
-
| Dicarboxylic aciduria
-
| Prolonged G2 phase of cell cycle
-
| Hyperglutaminemia
-
| Generalized amyloid deposition
-
| Decreased methylmalonyl-CoA mutase activity
-
| Deficient excision of UV-induced pyrimidine dimers in DNA
-
| Increased IgE level
-
| Mild hearing impairment
-
| Abnormal respiratory epithelium morphology
-
| Abnormal respiratory system morphology
-
| ST segment elevation
-
| ST segment depression
-
| Absent inner dynein arms
-
| Absent outer dynein arms
-
| Dynein arm defect of respiratory motile cilia
-
| Ewing's sarcoma
-
| Abnormal brain choline/creatine ratio by MRS
-
| Reduced brain N-acetyl aspartate level by MRS
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