-
| Cerebral palsy
-
| Abnormality of movement
-
| Recurrent hand flapping
-
| Conspicuously happy disposition
-
| Overfriendliness
-
| Arteriovenous malformation
-
| Recurrent pancreatitis
-
| Social and occupational deterioration
-
| Involuntary jerking movements
-
| Late-onset muscular dystrophy
-
| Dilated third ventricle
-
| Hyperactive patellar reflex
-
| Bronchiolitis obliterans
-
| Respiratory tract infection
-
| Small vessel vasculitis
-
| Bronchiolitis obliterans organizing pneumonia
-
| Increased urinary sulfite
-
| Facial-lingual fasciculations
-
| Anterior wedging of T12
-
| Anterior wedging of L2
-
| Thrombophlebitis
-
| Recurrent thrombophlebitis
-
| Precocious atherosclerosis
-
| Intermittent claudication
-
| Abnormality of the pulmonary artery
-
| Pulmonary artery stenosis
-
| Deviated nasal septum
-
| Proportionate short stature
-
| Short ear
-
| Slowed horizontal saccades
-
| Absent extraocular muscles
-
| Marginal corneal dystrophy
-
| Central corneal dystrophy
-
| Focal absence of the external ear
-
| Mild short stature
-
| Aplasia/Hypoplasia of the proximal phalanx of the thumb
-
| Contractures of the interphalangeal joint of the thumb
-
| Contractures of the carpometacarpal joint of the thumb
-
| Contractures of the metacarpophalangeal joint of the thumb
-
| Distally placed thumb
-
| Proximal placement of thumb
-
| Radial deviation of the thumb
-
| Ulnar deviation of the thumb
-
| Abnormal placental size
-
| Widened cerebral subarachnoid space
-
| Widened cerebellar subarachnoid space
-
| Orthopnea
-
| Paroxysmal dyspnea
-
| Cerebral white matter atrophy
-
| Absent mastoid
-
| Impaired social reciprocity
-
| Abnormal arm span
-
| Neonatal asphyxia
-
| Absent eyebrow
-
| Polydactyly affecting the 3rd finger
-
| Duplication of phalanx of 3rd finger
-
| Absent epiphyses of the 2nd finger
-
| Melanin pigment aggregation in hair shafts
-
| Abnormal insertion of umbilical cord
-
| Placental abruption
-
| Proximal/middle symphalangism of 3rd finger
-
| White eyelashes
-
| Complete duplication of the middle phalanx of the 2nd finger
-
| Partial duplication of the middle phalanx of the 2nd finger
-
| Radial deviation of the hand
-
| Ulnar deviation of the hand
-
| Deviation of the hand or of fingers of the hand
-
| Radial deviation of the hand or of fingers of the hand
-
| Sparse pubic hair
-
| Woolly hair
-
| Hypoplasia of the prostate
-
| Aplasia/hypoplasia of the uterus
-
| Enlarged labia minora
-
| Acute tubular necrosis
-
| Bilateral cryptorchidism
-
| Renal hypoplasia
-
| Focal retinal infarction
-
| Restrictive partial external ophthalmoplegia
-
| Duplicated collecting system
-
| Abnormality of reproductive system physiology
-
| Renal insufficiency
-
| Horseshoe kidney
-
| Ectopic kidney
-
| Neutrophil inclusion bodies
-
| Cleft at the superior portion of the pinna
-
| Thin ribs
-
| Hypoplastic scapulae
-
| Broad ribs
-
| Prominent sternum
-
| Cupped ribs
-
| Deformed rib cage
-
| Abnormality of the clavicles
-
| Horizontal ribs
-
| Peripheral retinopathy
-
| Calcification of the auricular cartilage
-
| Cochlear degeneration
-
| High-frequency hearing impairment
-
| premature birth following premature rupture of fetal membranes
-
| Abnormality of the sacrum
-
| Abnormality of the vertebral endplates
Document Actions