-
| Hypospadias
-
| Scrotal hypoplasia
-
| Chordee
-
| Enlarged penis
-
| Vertical supranuclear gaze palsy
-
| Absent external genitalia
-
| Hyperlipoproteinemia
-
| Hyperchloridura
-
| Hypomagnesemia
-
| Abnormality of chromosome segregation
-
| Elevated hepatic transaminases
-
| Myoglobinuria
-
| Methylmalonic acidemia
-
| Ketonuria
-
| Hypermagnesemia
-
| Abnormality of metabolism/homeostasis
-
| Hypoplastic nasal tip
-
| Cartilaginous ossification of nose
-
| Prominent nasal tip
-
| Nonspherocytic hemolytic anemia
-
| Hypochromic anemia
-
| Microangiopathic hemolytic anemia
-
| Absent nasal septal cartilage
-
| Prominent nasolabial fold
-
| Neoplasm of the small intestine
-
| Mouches volantes
-
| Abnormality of vitamin K metabolism
-
| Round ear
-
| Atrophodermia vermiculata
-
| Malignant neoplasm of the central nervous system
-
| Benign neoplasm of the central nervous system
-
| Neoplasm of the large intestine
-
| Hepatic agenesis
-
| Recurrent cutaneous abscess formation
-
| Increased female libido
-
| Decreased female libido
-
| Female anorgasmia
-
| Female sexual dysfunction
-
| Vaginismus
-
| Dyspareunia
-
| Imperforate hymen
-
| Hydrometrocolpos
-
| Endometriosis
-
| Abnormal female reproductive system physiology
-
| Abnormality of endocrine pancreas physiology
-
| Abnormality of exocrine pancreas physiology
-
| Congenital onychodystrophy
-
| Chronic monilial nail infection
-
| Dystrophic fingernails
-
| Recurrent loss of toenails and fingernails
-
| Congenital curved nail of fourth toe
-
| Subungual hyperkeratosis
-
| obsolete Small vertebral bodies
-
| Tracheal stenosis
-
| Tracheomalacia
-
| Abnormality of the trachea
-
| Subdural hemorrhage
-
| Cerebral cortical hemiatrophy
-
| Ring fibers
-
| Muscle fiber intranuclear inclusion bodies
-
| Cerebellar hemisphere hypoplasia
-
| Muscle fiber hyaline bodies
-
| Muscle fiber tubular inclusions
-
| Desmin bodies
-
| Muscle fiber cytoplasmatic inclusion bodies
-
| Muscle fiber tubuloreticular inclusions
-
| Short middle phalanx of toe
-
| Irregular iliac crest
-
| Limb-girdle muscle atrophy
-
| Deposits immunoreactive to beta-amyloid protein
-
| Absent proximal finger flexion creases
-
| Nemaline bodies
-
| Marked delay in bone age
-
| Aplastic pubic bones
-
| Pancreatic islet-cell hyperplasia
-
| Flattened femoral head
-
| Metacarpophalangeal joint contracture
-
| Large iliac wings
-
| Narrow femoral neck
-
| Vertebral segmentation defect
-
| Thoracolumbar kyphoscoliosis
-
| Platyspondyly (childhood)
-
| First dorsal interossei muscle atrophy
-
| Thenar muscle weakness
-
| CNS hypomyelination
-
| Duplication of bones involving the upper extremities
-
| Depletion of mitochondrial DNA in muscle tissue
-
| Synostosis involving bones of the feet
-
| Enlarged epiphysis of the distal phalanx of the 5th finger
-
| Abnormality of cerebral artery
-
| Supernumerary bones of the axial skeleton
-
| Triangular epiphysis of the distal phalanx of the 5th finger
-
| Small epiphysis of the distal phalanx of the 5th finger
-
| Ivory epiphyses of the distal phalanges of the hand
-
| Increased caudate lactate level
-
| Enlarged peripheral nerve
-
| Retractile testis
-
| Abnormal inflammatory response
-
| Abnormality of intracranial pressure
-
| Decreased intracranial pressure
Document Actions