-
| Inappropriate behavior
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| Aggressive behavior
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| Brachycephaly
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| Restlessness
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| Sinusitis
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| Abnormality of the sinuses
-
| Brachyturricephaly
-
| Trigonocephaly
-
| Parietal bossing
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| Autism
-
| Abnormality of skull size
-
| EEG with periodic abnormalities
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| EEG with periodic complexes
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| EEG with localized low amplitude activity
-
| EEG with generalized low amplitude activity
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| EEG with periodic lateralized epileptiform discharges
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| EEG with photoparoxysmal response
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| Increased red cell sickling tendency
-
| EEG with burst suppression
-
| Decreased activity of mitochondrial complex IV
-
| EEG with spike-wave complexes
-
| Elevated plasma branched chain amino acids
-
| Hypoplasia of the iris dilator muscle
-
| Abnormality of immune system physiology
-
| EEG with temporal sharp slow waves
-
| EEG with parietal sharp slow waves
-
| Sclerosis of the distal phalanx of the 2nd finger
-
| Concave nail
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| Cavernous hemangioma
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| Absent dorsal skin creases over affected joints
-
| Multiple long-bone exostoses
-
| High axial triradius
-
| Bell-shaped thorax
-
| Multiple pterygia
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| Facial erythema
-
| Distal ulnar hypoplasia
-
| Atopic dermatitis
-
| Alopecia
-
| Abnormality of the nail
-
| Oral synechia
-
| Thin proximal phalanges with broad epiphyses
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| Postaxial oligodactyly
-
| Single interphalangeal crease of fifth finger
-
| Limited mobility of proximal interphalangeal joint
-
| Abnormality of the uterine cervix
-
| Progressive cerebellar ataxia
-
| Cervical endometriosis
-
| Abnormality of the cardiovascular system
-
| Abnormality of cardiac morphology
-
| Premature birth
-
| Breech presentation
-
| High pitched voice
-
| Weak voice
-
| Fallopian tube torsion
-
| Ventricular septal defect
-
| Fallopian tube duplication
-
| Constricted radial neck
-
| Abnormality of radial epiphyses
-
| Flattened radial head
-
| Hypoplastic radial head
-
| Dislocated wrist
-
| Abnormality of the radial head
-
| Slender ulna
-
| Broad ulna
-
| Pointed ulna
-
| Osteosclerosis of the ulna
-
| Female pseudohermaphroditism
-
| Meckel diverticulum
-
| Abnormality of the small intestine
-
| Duodenal atresia
-
| Abnormality of the duodenum
-
| Hepatomegaly
-
| Protein-losing enteropathy
-
| Abnormality of the intestine
-
| Melena
-
| Hematemesis
-
| Poorly formed metencephalon
-
| Aplasia cutis congenita of midline scalp vertex
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| Short nose
-
| Short nasal bridge
-
| Allergic rhinitis
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| Cleft ala nasi
-
| Myopathy
-
| Decreased muscle mass
-
| Pyloric stenosis
-
| Gastroesophageal reflux
-
| Anal atresia
-
| Anal stenosis
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| Malabsorption
-
| Abdominal pain
-
| Chronic diarrhea
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| Rapid neurologic deterioration
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| CNS demyelination
-
| Enlargement of the proximal femoral epiphysis
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| Steppage gait
-
| Bipolar affective disorder
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| Oromotor apraxia
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| Narrow greater sacrosciatic notches
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| Axonal degeneration/regeneration
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| Extrapyramidal dyskinesia
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