-
| Localized
-
| Horizontal crus of helix
-
| Unilateral
-
| Bilateral
-
| Laterality
-
| Abnormality of the antitragus
-
| Generalized
-
| Spatial pattern
-
| Left
-
| Right
-
| Short fifth metatarsal
-
| Decreased number of CD4+ T cells
-
| Pectoralis major hypoplasia
-
| Generalized distal tubular acidosis
-
| Sclerosis of the middle phalanx of the 3rd toe
-
| Impairment of galactose metabolism
-
| Sclerosis of the middle phalanx of the 4th toe
-
| Mitral valve arcade
-
| Common atrium
-
| Cor triatriatum dexter
-
| Abnormality of the capitate bone
-
| Curved proximal phalanx of the 4th finger
-
| Aplasia/Hypoplasia of the distal phalanx of the 4th finger
-
| Straddling atrioventricular valve
-
| Abnormal ventriculo-arterial connection
-
| Abnormality of the proximal phalanx of the 4th finger
-
| Curved phalanges of the 4th finger
-
| Curved distal phalanx of the 4th finger
-
| Curved middle phalanx of the 4th finger
-
| Short 4th finger
-
| Aplasia of the 4th finger
-
| Abnormality of the distal phalanx of the 4th finger
-
| Narrow carpal joint spaces
-
| Narrow small joints of the hand
-
| Bicarbonate-wasting renal tubular acidosis
-
| Sclerosis of the middle phalanx of the 5th toe
-
| Short metatarsal
-
| Edema of the upper limbs
-
| Broad philtrum
-
| Abnormality of the philtrum
-
| Medial flaring of the eyebrow
-
| T lymphocytopenia
-
| Aplasia of the phalanges of the toes
-
| Absent metatarsal bone
-
| Broad face
-
| Facial edema
-
| Blepharochalasis
-
| Coarse facial features
-
| Increased facial adipose tissue
-
| Epicanthus
-
| Abnormality of glycolipid metabolism
-
| Abnormality of the ocular region
-
| Lack of insight
-
| Agoraphobia
-
| Personality changes
-
| Delayed speech and language development
-
| Autism with high cognitive abilities
-
| Hyperactivity
-
| Abnormality of the peripheral nervous system
-
| Impaired use of nonverbal behaviors
-
| Sclerotic cranial sutures
-
| Prefrontal hypometabolism in FDG PET
-
| Uterine leiomyoma
-
| Abnormality of the uterus
-
| Gonadal dysgenesis
-
| Menorrhagia
-
| Hypogonadism
-
| Female hypogonadism
-
| Abnormality of the ovary
-
| Bifid uterus
-
| Uterine prolapse
-
| Ovarian cyst
-
| Ventouse delivery
-
| Abnormality of corneal shape
-
| Absent pigmentation of chest
-
| Mortality/Aging
-
| Hyperparakeratosis
-
| Aplasia of facial bones
-
| Congenital glaucoma
-
| Bilateral triphalangeal thumbs
-
| Papilledema
-
| Cholecystitis
-
| Increased bone density with cystic changes
-
| Biliary tract abnormality
-
| Cholelithiasis
-
| Herpes simplex encephalitis
-
| 2-3 toe cutaneous syndactyly
-
| Brushfield spots
-
| Iris atrophy
-
| Abnormality of neutrophil physiology
-
| Anterior cerebral artery stenosis
-
| Pseudoepiphyses of the distal phalanges of the hand
-
| Impaired neutrophil bactericidal activity
-
| Gray matter heterotopias
-
| Enlarged cisterna magna
-
| Global brain atrophy
-
| Heterotopia
-
| Progressive alopecia
-
| Fair hair
-
| Alopecia universalis
Handlinger tilknyttet webside