-
| Abnormal origin of the coronary arteries
-
| Anomalous origin of coronary artery from the pulmonary artery
-
| Complete diaphragmatic absence of pericardium
-
| Complete right sided absence of pericardium
-
| Partial right sided absence of pericardium
-
| Complete left sided absence of pericardium
-
| Anomalous origin of left coronary artery from the pulmonary artery
-
| Anomalous origin of right coronary artery from the pulmonary artery
-
| Abnormality of the 4th toe
-
| Abnormality of the 3rd toe
-
| Abnormality of the epiphyses of the 2nd toe
-
| Abnormality of the 5th toe
-
| Aplasia/Hypoplasia of the 2nd toe
-
| Abnormality of phalanx of the 2nd toe
-
| Flexion contracture of the 2nd toe
-
| Deviation of the 2nd toe
-
| Abnormality of the epiphyses of the 3rd toe
-
| Polydactyly affecting the 2nd toe
-
| Frank breech presentation
-
| EEG with hyperventilation-induced epileptiform discharges
-
| Conductive hearing impairment
-
| Sensorineural hearing impairment
-
| Fullness of paranasal tissue
-
| Macrotia
-
| Recurrent otitis media
-
| Stenosis of the external auditory canal
-
| Progressive sensorineural hearing impairment
-
| Bilateral breast hypoplasia
-
| Congenital contracture
-
| Scleral schwannoma
-
| Accelerated bone age after puberty
-
| Arthrogryposis multiplex congenita
-
| Kyphosis
-
| Neoplasm of the breast
-
| Myocarditis
-
| Fixed facial expression
-
| Progeroid facial appearance
-
| Biventricular noncompaction cardiomyopathy
-
| Hemifacial hypertrophy
-
| Prominent nasal septum
-
| Mandibulofacial dysostosis
-
| Lack of facial subcutaneous fat
-
| Loss of facial expression
-
| Hypoplasia of right ventricle
-
| Extension of hair growth on temples to lateral eyebrow
-
| Disturbance of facial expression
-
| Protanomaly
-
| Capsular cataract
-
| Abnormal length of corpus callosum
-
| Short corpus callosum
-
| Abnormality of the mesentery
-
| Symmetric great toe depigmentation
-
| Acrokeratosis
-
| Episodic supraventricular tachycardia
-
| Palpebral fissure narrowing on adduction
-
| Lipemia retinalis
-
| Night blindness
-
| Synophrys
-
| Phthisis bulbi
-
| Horizontal nystagmus
-
| Hypodontia
-
| Absent muscle fiber gamma sarcoglycan
-
| Reduced muscle fiber gamma sarcoglycan
-
| Abnormal muscle fiber beta sarcoglycan
-
| Reduced muscle fiber alpha sarcoglycan
-
| Absent muscle fiber alpha sarcoglycan
-
| Abnormal muscle fiber alpha sarcoglycan
-
| Reduced muscle fiber beta sarcoglycan
-
| Absent muscle fiber beta sarcoglyan
-
| Abnormal muscle fiber delta sarcoglycan
-
| Abnormal muscle fiber gamma sarcoglycan
-
| Proximal/middle symphalangism of 3rd toe
-
| Absent forearm
-
| Hyperextensible hand joints
-
| Decreased anterioposterior diameter of lumbar vertebral bodies
-
| Hypoplasia of the ventral pons
-
| Symmetric spinal nerve root neurofibromas
-
| Episodic generalized hypotonia
-
| Prolonged QRS complex
-
| Impaired myocardial contractility
-
| Paroxysmal atrial tachycardia
-
| Reduced systolic function
-
| Impaired distal proprioception
-
| Posterior leukoencephalopathy
-
| Granulomatous coronary arteritis
-
| Situs inversus totalis
-
| Lens subluxation
-
| Constricted visual fields
-
| Corneal dystrophy
-
| Retinal arteriolar tortuosity
-
| Alternating esotropia
-
| Anterior polar cataract
-
| Chorioretinal dystrophy
-
| Optic neuropathy
-
| Choroideremia
-
| Abnormal vestibulo-ocular reflex
-
| Vitelliform maculopathy
-
| Hypoplasia of the iris
-
| Progressive night blindness
-
| Lacrimal duct stenosis
Document Actions