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Ureteral Duplication De Novo Mutation Identified in Some Patients Neonatal Lethal due to Respiratory Insufficiency Atelectatic Lungs Marked Brachydactyly Tibia Longer than Fibula Bowing of Ulna Marked Bowing of Radius Mildly Bowed Femora Vertebral Body Ossification Mildly Delayed Flat Broad Nasal Base Small Cavum Conchae High, Bulging Forehead Enlarged and Edematous Spleen Enlarged and Edematous Liver High Clavicles Irregular, Widened Anterior Ends of Ribs Small Phallus Mutation in the PXDN Gene Anterior Segment Dysgenesis Iridocorneal Dysgenesis Partial or Total Corneal Opacification Mutation in the AK2 Gene Diffuse Reticulogranular Pattern Seen on Chest Radiograph Lethal in the Neonatal Period Caused by Mutation in the Forkhead Box F1 Gene Features Other than ACD-MPV Are Variably Present Neonatal Pulmonary Hypertension Muscularization of Arterioles Increased Deficient Capillarization of Airspace Walls Alveolar Capillary Dysplasia Mutation in the COLEC11 Gene Diabetes Mellitus Develops in Adolescence Increased Urinary Magnesium Death in Neonatal Period Vacuolar Cardiomyopathy Persistent Bradycardia - Onset in Utero Normal Phosphorylase Kinase Activity in Muscle Glycogen in Muscle Increased Mild Atrophy Caused by Mutation in the T Box 15 Gene GRHPR Activity Decreased Urine L-Glycerate Increased Urine Oxalate Increased Caused by Mutation in the FK506-Binding Protein 10 Gene Some Features Are Variably Present Mutation in the ZBTB20 Gene Weight >90th Percentile Repetitive Compulsive Movements Tics or Anxieties Insulin-Resistant Diabetes Mellitus in Adulthood Mutation in the Glypican 6 Gene Mutation in the Alpha 1 Gap Junction Protein Gene Distal Interphalangeal Joints Enlarged Variable Cutaneous Syndactyly Involving Fingers 3, 4, and 5 Widely Separated Sutures at Birth Large Fontanelles at Birth Long Narrow Nose Hypoplastic Eyebrows Abnormal Growth Hormone Response to Stimulus Insulin-Like Growth Factor I Levels Low Dysdiadochokinesis Mutation in the Phosphoglycerate Dehydrogenase Gene See Also X-Linked Leigh Syndrome Relative Sparing of the Tibialis Anterior Muscle Relative Sparing of the Rectus Femoris Basal Metabolic Rate Normal Caused by Mutation in the WD Repeat Containing Protein 73 Gene Hypertrophic Podocytes Mutation in the Tubulin Gamma Complex Associated Protein 6 Gene Microcephaly (up to 11 SD) Mutation in the GPX4 Gene Onset Ranges from Young Adulthood to Sixties Mutation in the 33 kD Acidic Cluster Protein Gene Extrapyramidal Signs - Thinning of the Corpus Callosum Primitive Reflexes Patellar Subluxation Head Circumference >97th Percentile No Hydrocephalus Enlarged Corpus Callosum Hirsutism of Arms and Legs Hyperextensibility of Hands Posterior Spinal Arch Fusion Defect Wide Asymmetric Foramen Magnum Repeated Fractures Recurrent Infections (Pulmonary, Skin, Teeth) Brown Discolored Teeth Carp Mouth Mild Pulmonary Artery Dilation Excessive Skin Wrinkling of Palms and Soles Sandal Gap Metacarpophalangeal Joint Hyperextensibility Flared Epiphyses Bowing of Radius and Ulna Dysplasia of Radial Head Dysplasia of Distal Humerus Dysplasia of Glenoid Dysplasia of Proximal Humerus Gibbus Deformity at L1 Level Dysmorphic Appearance of Femoral Head