Du er her: Forside / intranet / phenofolder

phenoentry | Abnormality of circulating hormone level
phenoentry | Episodic peripheral neuropathy
phenoentry | Absent or minimally ossified vertebral bodies
phenoentry | Supernumerary vertebral ossification centers
phenoentry | Medially fused radial epiphyseal plates
phenoentry | Thoracic platyspondyly
phenoentry | Disc-like vertebral bodies
phenoentry | Hypoplastic sacrum
phenoentry | Lobular glomerulopathy
phenoentry | Low-frequency sensorineural hearing impairment
phenoentry | hump-shaped mound of bone in central and posterior portions of vertebral endplate
phenoentry | Abnormality of ion homeostasis
phenoentry | Prominent scrotal raphe
phenoentry | Overgrowth of external genitalia
phenoentry | Penile hypospadias
phenoentry | Underfolded helix
phenoentry | Increased phosphoribosylpyrophosphate (PRPP) synthetase
phenoentry | External genital hypoplasia
phenoentry | Gonadal tissue inappropriate for external genitalia or chromosomal sex
phenoentry | Genital ulcers
phenoentry | Severe
phenoentry | Profound
phenoentry | Neonatal short-limb short stature
phenoentry | Biilateral vocal cord paralysis
phenoentry | Unilateral vocal cord paresis
phenoentry | Bilateral vocal cord paresis
phenoentry | Clinical modifier
phenoentry | Severity
phenoentry | Mild
phenoentry | Moderate
phenoentry | Borderline
phenoentry | Global glomerulosclerosis
phenoentry | Crossed fused renal ectopia
phenoentry | Lytic defects of ulnar metaphysis
phenoentry | Irregular ulnar metaphysis
phenoentry | Sloping ulnar metaphysis
phenoentry | Impaired renal uric acid clearance
phenoentry | Wide ulnar metaphysis
phenoentry | Spurred ulnar metaphysis
phenoentry | Decreased carpal angles of wrist
phenoentry | Narrow joint spaces of wrist
phenoentry | Wide epiphyses of the upper limbs
phenoentry | Nonprogressive muscular atrophy
phenoentry | mesomelic/rhizomelic limb shortening
phenoentry | Absent rod-and cone-mediated responses on ERG
phenoentry | Flattened moderately deformed vertebrae
phenoentry | Bilateral elbow dislocations
phenoentry | Contractures of the joints of the lower limbs
phenoentry | Redundant skin
phenoentry | Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
phenoentry | Triangular epiphysis of the proximal phalanx of the 4th finger
phenoentry | Stippling of the epiphysis of the proximal phalanx of the 4th finger
phenoentry | Deviation of the 4th finger
phenoentry | Aplasia/Hypoplasia of the 4th finger
phenoentry | Contracture of the distal interphalangeal joint of the 4th finger
phenoentry | Joint contracture of the 4th finger
phenoentry | Contracture of the metacarpophalangeal joint of the 4th finger
phenoentry | Contracture of the proximal interphalangeal joint of the 4th finger
phenoentry | Radial deviation of the 4th finger
phenoentry | Ulnar deviation of the 4th finger
phenoentry | Abnormality of the malleus
phenoentry | Partial duplication of the phalanx of hand
phenoentry | Mask-like facies
phenoentry | Chin dimple
phenoentry | Inappropriate laughter
phenoentry | Paroxysmal bursts of laughter
phenoentry | Abnormality of the temporomandibular joint
phenoentry | Asymmetry of the maxilla
phenoentry | Aplasia/Hypoplasia of the premaxilla
phenoentry | Aplasia of the premaxilla
phenoentry | Abnormality of the forehead
phenoentry | Abnormality of facial adipose tissue
phenoentry | Loss of facial adipose tissue
phenoentry | Full cheeks
phenoentry | Low anterior hairline
phenoentry | Doll-like facies
phenoentry | Low frustration tolerance
phenoentry | Facial hypotonia
phenoentry | Abdominal symptom
phenoentry | Esophageal carcinoma
phenoentry | Carotid artery stenosis
phenoentry | Duplication of phalanx of hand
phenoentry | Leg muscle stiffness
phenoentry | Prolonged brainstem auditory evoked potentials
phenoentry | Lethal skeletal dysplasia
phenoentry | Flattened knee epiphyses
phenoentry | Arterial stenosis
phenoentry | Second metatarsal posteriorly placed
phenoentry | Absent brainstem auditory responses
phenoentry | Hydronephrosis
phenoentry | Renal salt wasting
phenoentry | Renal tubular dysfunction
phenoentry | Pelvic kidney
phenoentry | Unilateral renal agenesis
phenoentry | Nephritis
phenoentry | Nephrocalcinosis
phenoentry | Renal potassium wasting
phenoentry | Clinodactyly of hallux
phenoentry | Finger clinodactyly
phenoentry | Chromsome breakage

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