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38501 to 38600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Limited Jaw Opening
'Whistling' Appearance
H- or V-Shaped Chin Dimple
Urine Copper High
Non-Ceruloplasmin-Bound Copper High
Liver Copper High
Mixed Demyelinating and Axonal Polyneuropathy
Atlantoaxial Subluxation
Xanthine Urolithiasis
Light Fine Hair
Migratory Ichthyosiform Dermatosis
Broad Second Toes
Thickened Soles
Clinodactyly and/or Camptodactyly of 5th Finger
Thickened Palms
Flattened Occiput
Bifid Incisor
Birth Length > 90th Percentile
Mutations in the MID1 Gene
Nasal Tip Groove
Often Confused with Tuberous Sclerosis (191000)
Prenatal or Perinatal Lethality in Hemizygous Males
Caused by Mutation in the Filamin A Gene
Strokes due to Coagulopathy
Refractory Seizures
Mutation in the AR Gene
Luxuriant Scalp Hair
Plasma Follicle Stimulating Hormone Elevated
Plasma Luteinizing Hormone Elevated
Plasma Testosterone Normal-Elevated
Normal Male Karyotype (46,XY)
Female Body Fat Distribution
Female Body Habitus
Tall for Females (Mean Height 171-5 cm)
Blind Vagina
Abdominal, Inguinal or Labial Testes
Hypoplasia or Normal Development of Clitoris
Underdeveloped Labia
Female External Genitalia in Males
Proximal, Slowly Progressive Muscle Weakness
Dwarfism Not Detectable at Birth
Pectus Carinatum Present in Obligate Carrier Mothers
Short Broad Metacarpals and Phalanges
Cone-Shaped Epiphyses of Distal Radii
Underossified Epiphyses
Prominent Ulnar Styloid Process
Disproportionately Long Fibulae
Long Ulna
Short Broad Long Bone Diaphyses
Moderate Limitation of Elbow Extension
Hypoplastic Iliac Bone
Narrow Pelvis
Wedge-Shaped 11th or 12th Thoracic Vertebrae
Anterior Vertebral Tongue
Mild Odontoid Hypoplasia
Mild Maxillary Hypoplasia
Severe Short-Trunked Dwarfism
Mutation in the IL1RAPL Gene
Finger Twitching
Mean Age of Onset 35-40 Years
Striatal Atrophy
Rare Segmental Demyelination and Remyelination
Rapid Disease Progression at Age 40-50 Years
Onset in Second Decade
'Onion Bulb' Formations
Aortic Aneurysms (Ascending Aorta or Aortic Arch)
Moya-Moya Phenomenon
Supraumbilical Abdominal Raphe
Sternal Pits
Sternal Clefting
Cerebral Infarction Dandy Walker Malformation
Migraine Headaches Ipsilateral to Facial Hemangioma
Homozygous 122 kb Deletion 11p15-p14
Generalized Aminoaciduria
Age of Onset 30 to 60 Years
Inability to Suppress Vestibuloocular Reflex
Response to Acetazolamide
Mutation in the HSPB1 Gene
Chronic Axonal Neuropathy (Sural Nerve Biopsy)
White Matter Abnormalities on MRI
Most Patients Remain Ambulatory
Very Slow Progression
Inborn Error of the Pyrimidine Degradation Pathway
Caused by Mutation in the Beta-Ureidopropionase Gene
Plasma, CSF and Urinary Dihydrothymine Increased
Plasma, Liquor and Urine Dihydrouracil Increased
Urine Dihydropyrimidines Increased
Severe Psychomotor Development Delay
Mean Duration of Symptoms: 4.2±2.4 Years
Mutations in the Prion Protein Gene
PrP-Immunoreactivity Limited to Cerebellum and Putamen
Minimal Gliosis
No Neurofibrillary Tangles
No Amyloid Plaques
Rapidly Progressive Dementia
Rapidly Progressive - 6 to 24 Months
Average Age of Onset 13 Years
Caused by Mutation in the ATPase Type 13A2 Gene
Atrophy of Pyramids
Mild Paraparesis