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26101 to 26200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Loss of Large Myelinated Fibers (Sural Nerve Biopsy)
Mild Upper Limb Ataxia
Fine Touch in the Lower Extremities Decreased
Caused by Mutation in the Ring Finger Protein 170 Gene
Axonal Spheroids in the Dorsal Column
Respiratory Insufficiency due to Defective Ciliary Clearance
Beating Amplitudes in Cilia Reduced
Absence of Projection C2b at the Central Pair Apparatus of Cilia
Rare Occurrences of 9+0 or 8+1 Cilia
Recurrent Rhinitis
Visual Impairment is Present at Birth and is Progressive
Atrophy of Peripheral Retinal Pigment Epithelium
Bone Spicule Pigmentation
Oculodigital Reflex
Severe Loss of Vision
Vitreous Normal
Bilateral Superior Corneal Opacities
Neonatal Laryngospasm
Episodic Neonatal Apnea
Loss of Large Myelinated Fibers (Nerve Biopsy)
Mildly Decreased Nerve Conduction Velocities
Neuropathic Changes Seen on EMG
Mother Who Carries the Mutation Is Clinically Unaffected
Loss of Independent Walking by Teenage Years
Adhalin Deficiency (Muscle Biopsy)
Necrosis and Degeneration (Muscle Biopsy)
Skin Dimples on Upper Thighs
Mutation in the Cystatin A Gene
Mitral and/or Tricuspid Valve Dysplasia
Darkly Pigmented Skin
Pectus Anomalies
Candidiasis Is Restricted to Nails of Hands and Feet
Microvacuolation
No Pick Bodies or Lewy Bodies
Amyloid Plaques May be Present
Cognitive Impairment - Gradual Onset
Necrotic and Atrophic Fibers with Centralized Nuclei
Levels of Coenzyme Q10 in Skeletal Muscle Decreased
Abnormal Mitochondria in Podocytes
Podocyte Effacement
Coenzyme Q10 Content Decreased
Some Patients Carry Heterozygous Mutations
Mutation in the Paraplegin Gene
Lactic Acidosis during Infection
Carrier Rate of 1 in 11 Among Old Order Amish
Death Usually Within First Year of Life
Progression of the Disorder is Precipitated by Viral Symptoms
Mutation in the Solute Carrier Family 25 Member 19 Gene
Urine 2 Ketoglutarate Increased
Absence of Anterior and Posterior Fontanelles
Nearly Absent Cranial Vault
Extreme Microcephaly
Hepatomegaly Associated with Infection
Hypoplastic Pons
Immature Brain with No Gyral Development
Mutation in the Adenylate Cyclase 5 Gene
Quadricuspid Aortic Valve
Urethral Prolapse
Single Kidney
17-Hydroxyprogesterone Level Elevated
F Syndrome Has Many Overlapping Features
Cutaneous Syndactyly of All Toes
Soft Tissue Syndactyly between All Fingers
Seizures Remit in Early Childhood
Mutation in the CHSY1 Gene
Facial Appearance Becomes More Apparent with Age
Mutation in the MLL Gene
Patchy Hypertrichosis
Sacral Dimple
Cupid's Bow Exaggerated
Slim Muscular Build
Androgenic Alopecia
Central Fat Distribution
Cortisol Secretion Rate High-Normal or Increased
High Level of Cortisone Metabolites
Urine Cortols-to-Cortolone Ratio Decreased
Conversion of Oral Cortisone Acetate to Plasma Cortisol Delayed
Disease Complicated by Recurrent Sepsis in Some Patients
Dilation of Dermal Capillaries
Mild Dermal Perivascular Lymphocytic Infiltrate
Granular Layer Normal or Slightly Prominent
Moderate Parakeratosis
Moderate Acanthosis
Mild Thickening of Stratum Corneum
Orthokeratosis
Scales on Scalp
Fine, White or Greyish White Scales
Progressive Conduction Defect
Patients Often Require Implantation of a Pacemaker
Incomplete or Complete Right Bundle Branch Block
Caused by Mutation in the TRK-Fused Gene (TFG)
Neurogenic Changes (EMG and Biopsy)
Axonal Degeneration Seen on Nerve Conduction Studies
Loss of Myelinated Fibers in Spinal Cord Roots
Bulbar Symptoms May Occur
Homozygotes Have Earlier Onset and a more Severe Disorder
High Incidence in Sweden and Finland
Adult Onset - Range 40-60 Years
Myopathic Changes Seen Muscle Biopsy
Weakness of the Anterior Tibial Muscle and Toe Extensors