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| Mobitz II atrioventricular block
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| Atrioventricular dissociation
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| IgE deficiency
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| Prominent frontal sinuses
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| Progressive sclerosis of skull base
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| Widely patent sagittal suture
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| Decreased calvarial ossification
-
| Fusion of middle ear ossicles
-
| Orbital craniosynostosis
-
| Irregular epiphyses of the distal phalanges of the hand
-
| Fragmentation of the epiphyses of the distal phalanges of the hand
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| Testicular atrophy
-
| Cryptorchidism
-
| Stippling of the epiphyses of the distal phalanges of the hand
-
| Small epiphyses of the distal phalanges of the hand
-
| Absent epiphyses of the middle phalanges of the hand
-
| Triangular epiphyses of the distal phalanges of the hand
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| Inguinal hernia
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| Abnormality of male internal genitalia
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| Megacystis
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| Urinary incontinence
-
| Azoospermia
-
| Male hypogonadism
-
| Functional abnormality of male internal genitalia
-
| Prostatitis
-
| Sparse eyebrow
-
| Abnormality of the eyebrow
-
| Epicanthus inversus
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| Corneal crystals
-
| Chorioretinal atrophy
-
| Chorioretinal abnormality
-
| Abnormality of refraction
-
| Pseudopapilledema
-
| Abnormality of the forearm
-
| Reduced delayed hypersensitivity
-
| Absent microvilli on the surface of peripheral blood lymphocytes
-
| Genu varum
-
| Aplasia/Hypoplasia involving the central nervous system
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| Radioulnar synostosis
-
| Decreased plasma free carnitine
-
| Bowing of the legs
-
| Absence of intrinsic factor
-
| Anoperineal fistula
-
| Pancreatic calcification
-
| Anal mucosal leukoplakia
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| Midgut malrotation
-
| Hypoplastic colon
-
| Duplication of internal organs
-
| Chewing difficulties
-
| Frequent Giardia lamblia infestation
-
| Rotated maxillary central incisors
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| Intestinal fistula
-
| Long thorax
-
| Decreased activity of mitochondrial complex II
-
| Aplasia/Hypoplasia of the colon
-
| Patchy sclerosis of the middle phalanx of the 3rd finger
-
| Testicular torsion
-
| Drooling
-
| Blue nevus
-
| Renovascular hypertension
-
| Lip hyperpigmentation
-
| Macular dystrophy
-
| Photosensitive tonic-clonic seizures
-
| Diffuse white matter abnormalities
-
| Cervix cancer
-
| Lung adenocarcinoma
-
| Pharyngeal neoplasm
-
| Paranasal sinus neoplasm
-
| Medulloepithelioma
-
| Central primitive neuroectodermal tumor
-
| Bronchial neoplasm
-
| Lobular carcinoma in situ
-
| Ductal carcinoma in situ
-
| Chemodectoma
-
| Abnormal iron deposition in mitochondria
-
| Cerebral artery atherosclerosis
-
| Respiratory alkalosis
-
| Episodic ammonia intoxication
-
| Bilateral talipes equinovarus
-
| Diabetic ketoacidosis
-
| Episodic fever
-
| Unexplained fevers
-
| Truncal obesity
-
| Short foot
-
| Nonketotic hypoglycemia
-
| Polydipsia
-
| Medium chain dicarboxylic aciduria
-
| Adrenocortical carcinoma
-
| Ganglioneuroblastoma
-
| Transitional cell carcinoma of the bladder
-
| Congenital neuroblastoma
-
| Embryonal rhabdomyosarcoma
-
| Adrenal pheochromocytoma
-
| Malignant gastrointestinal tract tumors
-
| Bidirectional ventricular ectopy
-
| Increased alpha-globulin
-
| Aplasia/Hypoplasia involving the sinuses
-
| Left ventricular septal hypertrophy
-
| Anomalous origin of right pulmonary artery from ascending aorta
-
| Osteolysis
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