-
| Thoracoabdominal wall defects
-
| Lower limb peromelia
-
| Forearm undergrowth
-
| Aplasia involving forearm bones
-
| Aplasia involving bones of the upper limbs
-
| Upper limb undergrowth
-
| Aplasia involving bones of the extremities
-
| Limb undergrowth
-
| Amelia
-
| Peromelia
-
| Phocomelia
-
| Severe hearing impairment
-
| External carotid artery dissection
-
| Intracranial internal carotid artery dissection
-
| Carotid artery aneurysm
-
| Congenital hypoparathyroidism
-
| Oligodactyly
-
| Asterixis
-
| Hair-pulling
-
| Skin-picking
-
| Primary gonadal insufficiency
-
| Head-banging
-
| Thyroid agenesis
-
| Absence of pubertal development
-
| Multiple pancreatic beta-cell adenomas
-
| Abnormality of galactoside metabolism
-
| Abnormality of glycosphingolipid metabolism
-
| Abnormality of vitamin B metabolism
-
| Abnormality of the vitamin B12 metabolism
-
| Cervical spinal canal stenosis
-
| Weakness of muscles of respiration
-
| Abnormality of cerebrosidase metabolism
-
| Abnormality of ganglioside metabolism
-
| Progressive cervical vertebral spine fusion
-
| Abnormality of bone mineral density
-
| Reduced bone mineral density
-
| Diaminoaciduria
-
| Partial functional complement factor D deficiency
-
| Osteoblastoma
-
| Broad fingertip
-
| Absent foot
-
| Long palm
-
| Convex contour of sole
-
| Broad thumb
-
| Partial absence of toe
-
| Splayed toes
-
| Slender toe
-
| Tapered toe
-
| Ivory epiphysis of the middle phalanx of the 5th toe
-
| Abnormality of T cell physiology
-
| Enlarged polycystic ovaries
-
| Duplication of metatarsal bones
-
| Abnormality of the musculature of the upper limbs
-
| Autosomal dominant somatic cell mutation
-
| Abnormality of the hip-girdle musculature
-
| Somatic mosaicism
-
| Abnormality of the gluteal musculature
-
| Synostosis involving metatarsal bones
-
| Abnormality of the musculature of the thigh
-
| Structural foot deformity
-
| Contractures of the metatarsophalangeal joint of the hallux
-
| Contracture of the interphalangeal joint of the hallux
-
| Duplication of proximal phalanx of toe
-
| Triangular shaped proximal phalanges of the toes
-
| Contracture of the tarsometatarsal joint of the hallux
-
| Flexion contracture of the hallux
-
| Osteolytic defects of the proximal phalanx of the 4th finger
-
| Patchy sclerosis of the proximal phalanx of the 4th finger
-
| Broad proximal phalanx of the 4th finger
-
| Bullet-shaped proximal phalanx of the 4th finger
-
| Abnormality of the phalanges of the 3rd finger
-
| Deviation of the 3rd finger
-
| Symphalangism affecting the proximal phalanx of the 4th finger
-
| Triangular shaped proximal phalanx of the 4th finger
-
| Aplasia/Hypoplasia of the 3rd finger
-
| Joint contracture of the 3rd finger
-
| Hypnic headache
-
| Limited pronation/supination of forearm
-
| Urethral atresia, female
-
| Labial hypoplasia
-
| Labial hypertrophy
-
| Hypoplastic labia minora
-
| Fused labia minora
-
| Ambiguous genitalia
-
| Ambiguous genitalia, female
-
| Clitoral hypoplasia
-
| Abnormality of the ureter
-
| Urethral atresia
-
| Osteolytic defects of the distal phalanx of the 5th toe
-
| Patchy sclerosis of the middle phalanx of the 3rd toe
-
| Patchy sclerosis of the middle phalanx of the 4th toe
-
| Patchy sclerosis of the middle phalanx of the 5th toe
-
| Patchy sclerosis of the proximal phalanx of the 3rd toe
-
| Short proximal phalanx of the 5th toe
-
| Thoracic hypoplasia
-
| Unilateral absence of pectoralis major muscle
-
| Absence of pectoralis minor muscle
-
| Unilateral chest hypoplasia
-
| Abnormalities of the diaphyses of the hand
-
| Acute kidney injury
Handlinger tilknyttet webside