-
| Pancreatic hyperplasia
-
| Ectopic pancreatic tissue
-
| Beta-cell dysfunction
-
| Alopecia areata
-
| Abnormality of the bladder
-
| Bladder diverticulum
-
| Urinary urgency
-
| Hypoplasia of the uterus
-
| Synostosis of carpal bones
-
| Neurogenic bladder
-
| Abnormality of the rib cage
-
| Protrusio acetabuli
-
| Abnormality of the ischium
-
| Hypoplastic ischia
-
| Squared iliac bones
-
| Abnormality of the acetabulum
-
| Eruptive xanthomas
-
| Abnormality of the pubic bones
-
| Hypoplastic pubic bones
-
| Head titubation
-
| Prominent umbilicus
-
| Metacarpophalangeal joint hyperextensibility
-
| Finger joint hypermobility
-
| Paralytic ileus
-
| Intestinal lymphangiectasia
-
| 3-4 finger syndactyly
-
| Ileus
-
| Pancreatic hypoplasia
-
| Malaligned carpal bone
-
| Angiokeratoma
-
| Anemic pallor
-
| Intermediate uveitis
-
| Diastasis recti
-
| Cervical spine hypermobility
-
| Abnormality of the cervical spine
-
| Impaired pain sensation
-
| Abnormality of the odontoid process
-
| Hypoplasia of the odontoid process
-
| Abnormal form of the vertebral bodies
-
| Progressive choreoathetosis
-
| Deep white matter hypodensities
-
| Butterfly vertebrae
-
| Hypoplastic olfactory lobes
-
| Lower limb hypertonia
-
| Hypnopompic hallucinations
-
| Cranial nerve VI palsy
-
| Prominent calcaneus
-
| Thick cerebral cortex
-
| Frontotemporal cerebral atrophy
-
| Severely dysplastic cerebellum
-
| Decreased mannosylation of N-linked protein glycosylation
-
| Increased mannosylation of N-linked protein glycosylation
-
| Increased fucosylation of N-linked protein glycosylation
-
| Abnormal mannosylation of N-linked protein glycosylation
-
| Abnormal fucosylation of protein N-linked glycosylation
-
| Fusion of the cerebellar hemispheres
-
| Decreased sialylation of N-linked protein glycosylation
-
| Increased sialylation of N-linked protein glycosylation
-
| Impaired epinephrine-induced platelet aggregation
-
| Flattening of the talar dome
-
| Dislocation of toes
-
| Delayed calcaneal ossification
-
| Lower limb phocomelia
-
| Amelia involving the lower limbs
-
| Abnormality of the elbow
-
| Abnormality of the joints of the upper limbs
-
| Upper limb phocomelia
-
| Amelia involving the upper limbs
-
| Aplasia/hypoplasia of the extremities
-
| Upper limb peromelia
-
| Aplasia involving bones of the lower limbs
-
| Lower limb undergrowth
-
| Tarsal synostosis
-
| Abnormal tarsal ossification
-
| Abnormality of sulfur amino acid metabolism
-
| Abnormality of aromatic amino acid family metabolism
-
| Bone-marrow foam cells
-
| Abnormality of lymphocytes
-
| Decreased skull ossification
-
| Increased skull ossification
-
| Abnormality of amino acid metabolism
-
| Myelin outfoldings
-
| Contractures involving the joints of the feet
-
| Dermal atrophy
-
| Abnormality of upper lip vermillion
-
| Abnormality of mouth shape
-
| Paranoia
-
| Postprandial hyperglycemia
-
| Hemifacial atrophy
-
| Metopic synostosis
-
| Asymmetric crying face
-
| Hemifacial hypoplasia
-
| Frontal hirsutism
-
| Facial shape deformation
-
| Abnormality of mouth size
-
| Bitemporal forceps marks
-
| Broad first metatarsal
-
| Bullet-shaped 1st metatarsal
-
| Osteolytic defects of the phalanges of the hallux
-
| Patchy sclerosis of hallux phalanx
Document Actions