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