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32601 to 32700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Episodic Erythrocyte Sedimentation Rate Increase
Episodic Arthralgia
IL6 Increased - Episodic
Episodic Polymorphonuclear Leukocytosis
Myalgia Episodic
Episodic Conjunctivitis
Progressive Late Onset Sensorineural Deafness
Caused by Mutation in the Bestrophin 1 Gene (BEST1 607854-0020)
Reduced Electroretinogram Becoming Extinguished in Older Patients
Chronic Angle-Closure Glaucoma in Older Patients
Nanophthalmos if No Staphyloma
Posterior Staphyloma in Most Eyes
Peripheral Retinal Pigment Epithelium Atrophy
Fundus Dystrophy
Vitreous Fibrillar Condensation
Punctate White Opacities in the Retina
Onset of Night Blindness during Adolescence
Sensorineural Hearing Loss Associated with ELSTs
Endolymphatic Sac Tumor
Allelic to Neurofibromatosis Type 1
Allelic to Ellis-Van-Creveld Syndrome
Autosomal Recessive Form Has Also Been Described
See Also DA2B Which Is an Allelic Disorder
Interstitial Connective Tissue Increased
Small Type 1 Fibers
Skeletal Muscle Biopsy Shows Fiber Size Variability
Mild Muscle Weakness
Acute Metabolic Decompensation
Highly Variable Phenotype - Ranging from Asymptomatic to Severe
Onset: Birth to Early Childhood
Butyryl Carnitine Increased
Short-Chain Acyl-CoA Dehydrogenase Activity Decreased
Chronic Failure to Thrive
Pigment Does not Develop with Age
Complete Absence of Melanin Synthesis
No Ability to Tan
Milky White Skin
Asymmetric Visual Evoked Potentials
Positive Angle Kappa
Absent Stereopsis due to Anomalous Decussation at the Optic Chiasm
Misrouting of the Optic Nerves at the Chiasm
High Refractive Errors
Visible Choroidal Vessels
Retinal Pigment Absent
Blue Gray Irides (Adult)
Pink Irides
Absent Iris Pigment
Mutation in the ALMS1 Gene
Discolored Enamel
Deformities of the Calyceal System
Narrowing of the Ureteropelvic Junctions
Anterior Open Bite
Vertical Dysgnathia
Retrognathic Mandibular Position
Mutation in the Tumor Associated Calcium Signal Transducer 2 Gene
Raised Yellowish Gray Gelatinous Masses
Foreign Body Sensation (Early Symptom)
Photophobia (Early Symptom)
Blurred Vision (Early Symptom)
Lacrimation - Early Symptom
Open Spina Bifida (Myelomeningocele)
Subnormal Intelligence
Ventricular Anomalies
Polygyria
Cisterna Magna Absent
Small Thin Cerebellum
Death Usually in the Perinatal Period
Lung Hypoplasia Secondary to Oligohydramnios
Dilated Bile Ducts
Hyperplastic Biliary Ducts
Dysplastic Bile Ducts
Ureteral Atresia
Deficient Nephron Differentiation
Number of Nephrons Decreased
Muscle Coenzyme Q Deficiency
Mutation in the MKKS Gene
Caused by Mutation in the BBS7 Gene (BBS7)
Mutation in the BBS5 Gene
Mutation in the BBS4 Gene
Caused by Mutation in the BBS2 Gene (BBS2)
Caused by Mutation in the BBS1 Gene (BBS1)
Mutation in the Regulatory Factor X, Ankyrin Repeat Containing Gene
Mutation in the RFX5 Gene
Mutation in the MHC2TA Gene
Mild to Severe Developmental Delay
Caused by Mutation in the Klotho Gene
Mutation in the PMM2 Gene
Abnormal Glycoproteins
Most Patients Are Wheelchair Bound
Stereotypic Behaviors (Hand-Washing Movements, Head Banging)
Mutation in the PEX26 Gene
Mutation in the PEX6 Gene
Mutation in the Peroxisome Biogenesis Factor 5 Gene
Reduced Numbers of Peroxisomes
Necrotic Hepatocytes on Biopsy
Nonspecific Inflammation on Biopsy
Giant Cell Hepatitis on Biopsy
Vacuolated Macrophages
Aplastic or Hypoplasia of First Metatarsal
Aplastic or Hypoplastic First Metacarpal