-
| Reduced CSF lactate
-
| Flattened, squared-off epiphyses of tubular bones
-
| Clinodactyly
-
| Chess-pawn distal phalanges
-
| Narrow anterio-posterior vertebral body diameter
-
| Sporadic
-
| Narcolepsy
-
| Restrictive cardiomyopathy
-
| High-output congestive heart failure
-
| Telangiectases of the cheeks
-
| Thromboembolic stroke
-
| Increased prevalence of valvular disease
-
| Aortic dilatation
-
| Hitchhiker thumb
-
| Abnormality of the renal medulla
-
| Inguinal freckling
-
| Abnormality of the fingernails
-
| Broad metacarpals
-
| 2-3 finger syndactyly
-
| Nail bed telangiectasia
-
| Wrist flexion contracture
-
| Slender finger
-
| Hydropic placenta
-
| Autoimmune antibody positivity
-
| Melanonychia
-
| Cystocele
-
| Thyroiditis
-
| Graves disease
-
| Laryngeal cyst
-
| Neoplasm of the adrenal cortex
-
| Neoplasm of the adrenal medulla
-
| Abnormality of nail color
-
| Benign gastrointestinal tract tumors
-
| Telangiectasia of the oral mucosa
-
| Aplasia/Hypoplasia of the scapulae
-
| Aplasia/Hypoplasia of the ribs
-
| Aplasia/Hypoplasia involving bones of the thorax
-
| Aplasia/Hypoplasia of the clavicles
-
| Peripheral neuroepithelioma
-
| Hereditary nonpolyposis colorectal carcinoma
-
| Glomus tympanicum paraganglioma
-
| Aplasia/Hypoplasia of the sternum
-
| Calcified placenta
-
| Irregular epiphysis of the proximal phalanx of the 3rd toe
-
| Parachute mitral valve
-
| Congenital mitral stenosis
-
| Placental infarction
-
| Patchy sclerosis of the distal phalanx of the 5th toe
-
| Duplication of the distal phalanx of the 3rd toe
-
| Duplication of the distal phalanx of the 4th toe
-
| Reduced phenylalanine hydroxylase activity
-
| Short middle phalanx of the 3rd toe
-
| Short middle phalanx of the 4th toe
-
| Short distal phalanx of the 4th toe
-
| Short distal phalanx of the 5th toe
-
| Short proximal phalanx of the 4th toe
-
| Hypoplasia of the gallbladder
-
| Short middle phalanx of the 5th toe
-
| Short proximal phalanx of the 3rd toe
-
| Vestibular dysfunction
-
| Unbalanced atrioventricular canal defect
-
| Vestibular hypofunction
-
| Transitional atrioventricular canal defect
-
| Limitation of neck motion
-
| Abnormality of the motor neurons
-
| Limb dystonia
-
| Abnormality of the globus pallidus
-
| Eye of the tiger anomaly of globus pallidus
-
| Degenerative liver disease
-
| Abnormal head movements
-
| Dysautonomia
-
| Drusen
-
| Chronic calcifying pancreatitis
-
| Reduced antithrombin III activity
-
| Sudden episodic apnea
-
| Caesarian section
-
| Redundant neck skin
-
| Decreased platelet glycoprotein IIb-IIIa
-
| Retinal cavernous angioma
-
| Vagal paraganglioma
-
| Palmoplantar blistering
-
| Diffuse palmoplantar hyperkeratosis
-
| Generalized hyperpigmentation
-
| Hyperpigmented/hypopigmented macules
-
| Partial albinism
-
| Forceps delivery
-
| Hepatoblastoma
-
| Hyperkeratosis over edematous areas
-
| Confetti-like hypopigmented macules
-
| Ureteral dysgenesis
-
| Multidrug-resistant nephrotic syndrome
-
| Steroid-resistant nephrotic syndrome
-
| Unilateral renal hypoplasia
-
| Bilateral renal dysplasia
-
| Solitary renal cyst
-
| Calcium phosphate nephrolithiasis
-
| Macroscopic hematuria
-
| Bilateral renal atrophy
-
| Renal atrophy
-
| Bilateral renal hypoplasia
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