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32401 to 32500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Vertical Striations of Metaphyses
High, Narrow Palate (50%)
Bulbous Nasal Tip (95%)
Pear-Shaped Nose (82%)
Ptosis (50%)
Upslanted Palpebral Fissures (68%)
Pale Irides (45%)
Large, Prominent Ears (59%)
Broad Chin
Long Face (74%)
All Cases Are De Novo
Nasal Speech (50%)
Heart Defects (27%)
Abnormal Hair Texture
Abnormal Hair Pigmentation (55%)
Pectus Excavatum (23%)
Positional Foot Deformity (27%)
Long, Slender Fingers (61%)
Slender Lower Limbs
Duplex Renal System
Kidney - Urologic Anomalies
Friendly Behavior (89%)
Ventriculomegaly (38%)
Caused by Mutation in the Desmocollin 2 Gene (DSC2)
Weakness and Wasting of the Lower Limbs
Small Onion Bulb Formation
Abnormal Folding of the Myelin Sheath
Loss of Myelin
Sural Nerve Biopsy Shows Decrease in Myelinated Fibers
Progressive Cerebral White Matter Atrophy
Loss of Ability to Walk Later
Developmental Delay (Apparent after the First Year of Life)
Michel Aplasia
Microtia Type 1
Mutation in the Fibroblast Growth Factor 3 Gene
Skin Tags on the Upper Part of the Auricle
Pontocerebellar Arachnoid Cyst
Stenosis of the Jugular Foramen
Gross Motor Skill Delay (Infancy)
Neutrophil Maturation in Bone Marrow Intact
Peripheral Neutrophil Counts Low
Cytotoxic Activity of CD8+ T Cells Decreased
IgG Decreased in Adolescence (in 2/4 Patients)
Percentage of IgD+ IgM+ CD27+ Memory B Cells Decreased
Percentage of Naive IgD+ IgM+ CD27+ B Cells Increased
Total Number of CD19+ B Cells Increased
Thick Fleshy Lips
Wide, Open Mouth
Downturned Pointed Nasal Tip
Beaked Nasal Bridge
Fleshy Ears
High Cheekbones
Protruding Lower Face
Happy Personality
Atrophy of the Frontal and Parietal Cortex
Agenesis or Hypoplasia of the Corpus Callosum
Ventricular Asymmetry
Bulging of the Caudate Nuclei
Unstable Ataxic Gait
Limited Walking Abilities
Poor or Absent Speech Development
Normal Sclerae
Alkaline Phosphatase Increased during Hyperplastic Callus Formation
Metaphyseal Bands Adjacent to Growth Plate
Hyperplastic Callus
Calcified Interosseous Membrane - Forearms
Anterior Radial Head Dislocation
White to Faintly Blue Sclera
Severe Ambulatory Restriction
Onset of Fractures at Age 4-18 Months
No Easy Bruisability
Short Stature in Childhood
Long Bone Deformity
Bowed Extremities
Bulbous Metaphyses
Osteoid Volume Increased
Fish Scale-Pattern of Lamellae
Protrusio Acetabuli
Unilateral or Bilateral Coxa Vara
Vertebral Compression Fractures
Bone Mineral Density Reduced
Moderately Deforming Osteogenesis Imperfecta
Lack of Treatment Results in Early Death
Mutation in the PSAT1 Gene
Cerebrospinal Fluid Glycine Decreased
Cerebrospinal Fluid Serine Decreased
Glycine Decreased
Serine Decreased
Generalized Brain Atrophy
Jerky Movements
Mutation in the Radixin Gene
Symptoms Often Decrease or Remit with Age
Favorable Response to Anticonvulsants
Sensory Aura May Occur
Frequency of 1 to 20 Episodes Per Day
Episodes Last up to 2 Minutes
Episodic Choreic Movements
Absence of Foveal Pit
Cone Responses Decreased (ERG)
Rod Responses Extinguished on ERG