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Nerve Conduction Velocity Mutation in the HSPD1 Gene Structural Renal Abnormalities Defective Platelet Aggregation in Response to ADP Peptic Ulcer Disease and Hemorrhages Renal Function Impaired Urinary Tract Dilatation Prevalent Among Individuals of East Asian Descent Mutation in the Tau Tubulin Kinase 2 Gene Mutation in the Zinc Finger SWIM Domain Containing Protein 6 Severe Upper Airway Obstruction Vertical Clivus Persistent Craniopharyngeal Canal Carp-Shaped Mouth Separation of Nostrils Persistent Primary Vitreous Segmental Optic Nerve Hypoplasia Corneal Dermoid Cyst Persistent Falcine Venous Sinus Fenestrated Basilar Artery Absence of Anterior Pituitary Absent Olfactory Bulbs Interhemispheric Lipoma Calcification of the Falx Septum Pellucidum or Cavum Deficient Precipitated by Fever Onset at Mean Age of 13 Years (Range: 6-43 Years) Respiratory Muscle Weakness during Episodes Remyelinating Lesions after Episodes (Sural Nerve Biopsy) Nerve Conduction Block Slightly Reduced Nerve Conduction Velocities Quadriplegia during Fever Caused by Mutation in the Aspartate Beta Hydroxylase Gene Broad Nose Central Retrocorneal Fibrosis Intraocular Pressure Low Mild Microphthalmia Patchy Iris Atrophy Diffuse Posterior Synechiae Variable Degree of Angle Closure Iridocorneal Adhesions Avascular Conjunctival Cystic Elevations Ectopia Lentis Spherophakia Flat Cheeks All Cases Presumed De Novo Mutation Visual and Hearing Loss Are Slowly Progressive Residual Neurologic Deficits Are Slowly Progressive Acute Episodes Decrease with Age and Disappear Motor Incoordination Pseudocleft of the Columella Posterior Choanal Stenosis Mother Had Rubella Infection during Pregnancy with Daughter Slight Contractures of Distal Interphalangeal Joints Ulnar Deviation of Fingers Widespread Joint Pain Myopia (in Brother) Sensorineural Hearing Loss (in Sister) No Verbal Language Development (in Sister) Severe Stuttering Extreme Emotional Lability Usually Onset under Age 30 Years Permanent Loss of Sight Pigment-Dispersion Type Open-Angle Glaucoma Mutation in the Mitochondrial Lon Peptidase 1 Gene Glottic Narrowing Proximally Placed Thumbs Absence of Long Bones Hypoplastic or Absent Epiphyses Delayed Ossification of Epiphyses Thoracic and Lumbar Scoliosis Hypermobility of all Joints Chronic Sialorrhea Postnatal Bilateral Dense Nuclear Cataract Low-Frequency Conductive Hearing Loss Tympanic Membrane Mobility Impaired Extrahepatic Bile Duct Atresia Two Vessel Umbilical Cord Dilated Ureter Subcortical Hypomyelination Symmetric Ventriculomegaly Prominent Cortical Sulci Hypertrophy of the Interventricular Septum Caused by Mutation in the HTRA Serine Peptidase 1 Gene Congenital Absence of the Pericardium Single Umbilical Artery Absent Right 12th Rib Bilateral Cervical Ribs The MTTL1 c.3243A-G Transition Is the Most Common Mutation Caused by Mutation in the Ectodysplasin A Gene Trinucleotide Repeat Expansion CAGn in the Androgen Receptor Gene Mutation in the RNA Binding Motif Protein 10 Gene Squeaky Cry Airway Abnormalities Abnormal Hair Patterning Proximally Short Radius Widely Split Sagittal Sutures Tongue Nodules Simple Helix Tortuous Duodenum Short Sternum