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24201 to 24300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Pulmonary Hypoplasia Associated with Diaphragmatic Hernia
Giant Somatosensory Evoked Potentials
Occasionally Generalized Tonic Clonic Seizures
Mutation in the COL9A3 Gene
Homozygous Phenotype Not More Severe
Mutation in the ETS2 Repressor Factor Gene
Mild Shortening of Digits
Pansynostosis
Coronal Synostosis
Sagittal Synostosis
Dental Malocclusion Class I
Vertical Displacement of Nose
Exorbitism (Major Feature)
Prominent Forehead (Major Feature)
Language Acquisition Difficulties
Increased Intracranial Pressure Preoperatively
Ascending Muscle Weakness (Beginning with Feet and Legs)
Progressive Breathing Difficulty
Frontal and Parietal Bossing
Embryonal Rhabdosarcoma
Mild Hyperactive Behavior
Moderate Learning Difficulties
Infantile Onset
Posterior Subcapsular Lens Opacities
Night Blindness - Onset in Teens
Mutation in the RAB3GAP1 Gene
Mutation in the Myosin VIIa Gene
Most Patients Are Female
Mutation in the ZC4H2 Gene
Fat Pads on Hands and Feet
Severe Muscle Weakness
Mutation in the PLP1 Gene
Periodic Apnea while Awake
Progressive Vision Impairment
Caused by Mutation in the Emerin Gene (EMD)
Mutation in the IDS Gene
Pebbly Skin Lesions on Back, Upper Arms and Thigh
Pulmonary Hypoplasia
Autistic Behavior
Syndactyly of Toes 2-3
Shortening of the Fifth Metacarpal
Homocysteinemia
Athetosis
Asplenia and-or Polysplenia
Muscle Wasting (Especially Legs and Arms)
HHS: More Severe Variant, Often Death in Childhood
Cerebellar Hypoplasia - HHS Variant
Cerebellar Ataxia (in HHS Variant)
Delayed Development (about 25%)
Thick Wiry Hair
Fifth Finger Clinodactyly
Coronal Craniosynostosis
Regenerative Nerve Sprouting
Nerve Biopsy Shows Loss of Myelinated Fibers
Spinocerebellar Ataxia
Central Nervous System Involvement
Male Fetal Demise
Diastema of Incisors
Female Carriers May Develop Mild Hearing Loss as Adults
Prelingual Onset in Males
Mutation in the COL4A6 Gene
Incomplete Separation of the Cochlea from the Internal Auditory Canal
Carrier Females Are Unaffected
Caused by Mutation in the KIAA2022 Gene
No Sphincter Control
Stereotypical Hand Movements
Poor or Absent Speech Acquisition
Spasticity Occurs before Parkinsonism
Some Response to L-Dopa Therapy
Four-Repeat Tau-Plaques in the Striatum
Onset in First Decades
Auditory Brainstem Responses Decreased
Axonal Sensorimotor Polyneuropathy
Distal Sensory Impairment, Predominantly in Lower Limbs
Abnormal Transferrin Pattern Tends to Improve with Age
Males Carry Mutations in the Somatic Mosaic State
Shortened Extremities
Acute Nephrotic Syndrome
aPPT Prolonged
Abnormal Isoelectric Focusing of Serum Transferrin
Swelling of Eyelids
Swelling of the Hands and Feet
Developmental Regression after Onset of Seizures
Periodic Hyperpnea - Periodic Apnea
Marked Thickening of Descemet Membrane
Discontinuity and Degeneration of the Endothelial Cell Layer
Endothelial Changes Resembling Lunar Craters
Late Subepithelial Band Keratopathy
Congenital Corneal Clouding
Asymptomatic if Papillary Zone is Spared
Mutation in the Delta Aminolevulinate Synthase 2 Gene
Erythrocyte Zinc- and Metal-Free Protoporphyrin Increased
Most Patients Become Ventilator Dependent
Subtle Dysmorphic Facial Features
Males Are More Severely Affected
Large Appearing Eyes
Autonomic Disturbances
Thick Distal Phalanges
Abnormal Liver Enzymes during Illness
Non-Detectable Responses on Electroretinography