Wiedemann-Steiner Syndrome Data Analysis and Progress Report - November 2023

This report provides insights into the enrollment, survey completion, KMT2A mutation types, reported issues, completion rates of relevant surveys, and symptoms in individuals diagnosed with Wiedemann-Steiner Syndrome. With a global perspective, the data highlights various domains of concern, offering a comprehensive overview of the syndrome's impact on patients.

• Wiedemann-Steiner Syndrome
• Data Analysis
• Progress Report
• KMT2A Mutation
• Global Perspective

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1. WSS Data Collection Program Wiedemann-Steiner Syndrome Data Progress Report - November 2023

2. This report reflects the enrollment and completed surveys of 178 individuals diagnosed with WSS between the launch of the program on September 1, 2022 and November 20, 2023. Patient Locations Across the Globe

3. Percentage KMT2A Mutation Types Reported Sequence Classification Sequence Variant Type Protein Consequence Splice Site Variant Other Duplication Variant of Uncertain Significance Frameshift Missense Deletion Pathogenic Subsitution Likely Pathogenic Nonsense

4. Overview of Reported Issues Of 121 respondents, how many reported having issues in each of the following domains? 0 20 40 60 80 100 120 Developmental Issue Brain/Nervous System Behavior/Psychiatric 97.4%, 113 89.3%, 108 83.5%, 101 81.8%, 99 78.5%, 95 77.7%, 94 76.0%, 92 71.1%, 86 63.6%, 77 54.5%, 66 52.1%, 63 43.8%, 53 37.2%, 45 37.2%, 45 37.2%, 45 34.7%, 42 31.4%, 38 25.6%, 31 24.0%, 29 20.7%, 24 5%, 6 4 2%, 2 2%, 3 4%, 5 Growth Digestive Teeth/Mouth 1%, 1 3%, 4 2%, 3 Sleep Eyes/Vision Muscles 5%, 6 11%, 13 Pregnancy/Delivery/Birth Head/Face/Neck Bones/Cartilage/Connective Tissue 2%, 2 3%, 4 5%, 6 Ears/Hearing 5%, 6 6%, 7 3%, 4 Kidney/Bladder/Genitals Lungs/Breathing Immune 5%, 6 Heart/Blood Vessels 1%, 1 Skin 5%, 6 20%, 24 Hormones/Endocrine Loss of Skills/Regression Blood/Bleeding 6 Cancer 1 1 Number Reporting Yes Number Reporting Unsure

5. Completion Rate of Relevant Surveys 0% 20% 40% 60% 80% 100% Survey (total # assigned) Cancer (2) Growth (104) 100% 83.7% 83.1% 81.7% 80% 78.9% 76.1% 72.7% 71.9% 71.8% 70.6% 69.4% 68.9% 68.6% 68.4% 68.4% 66.7% 66.7% 66% 65.7% 64.9% Bone, Cartilage and Connective Tissue (59) Behavior (104) Blood and Bleeding (10) Kidney, Bladder, and Genitals (52) Eyes and Vision (92) Brain and Nervous System (110) Digestive System (96) Heart and Blood Vessels (39) Mother's Pregnancy (68) Lungs and Breathing (49) Muscles (90) Ears and Hearing (51) Oral Health (98) Head to Toe (177) Race and Ethnicity Concepts (177) Immune System (48) Endocrine incl. Hormones (51) Head, Face, and Neck (67) Skin (37) ORCA Measure (39) Quality of Life (177) 59% 54.2% 53.7% Interventional or Medical Diets (177) Medication and/or Supplement Usage (177) Quality of Life Inventory-Disability (119) RAND 36-Item Short Form Health-SF36 (17) Vineland-3 Comprehensive Form (68) Children's Sleep Habits Questionnaire (163) 48% 41.2% 35.3% 30.9% 30.7% 29.4% 29.4% 28.8% 26.9% 25.9% SCOPA-SLEEP (17) CNS Bulbar Function Scale (126) Medical Encounters (177) Eating Assessment Tool (EAT-10) (26) Pediatric Eating Assessment Tool (108)

7. Symptoms reported in Brain and Nervous System Domain 0 10 20 30 40 50 60 70 80 90 Cognitive Impairment 76.9%, 70 1 20 Hypotonia 72.5%, 66 4%, 4 21 Coordination Issues 52.7%, 48 4%, 4 39 Memory Impairment 27.5%, 25 6%, 6 60 Headaches Migraines 17.6%, 16 7%, 7 68 Abnormal EEG 12.1%, 11 4%, 4 76 Hypertonia 11.0%, 10 81 Seizures 9.9%, 9 7%, 7 75 Unusual Movements 9.9%, 9 1 81 Cerebral Palsy 1 88 Parkinsonism 1 0% 90 Yes Unsure No Total Complete: 80 Surveys still Needed: 30

9. Symptoms reported in Behavior Domain 0 20 40 60 80 100 Temper Tantrums 64.7%, 66 3%, 3 33 Aggressive Violent Behavior Short Attention Span 62.7%, 64 1%, 1 37 62.7%, 64 6%, 6 32 ASD 61.8%, 63 9%, 9 30 Impulsivity Anxiety 61.8%, 63 4%, 4 35 57.8%, 59 3%, 3 40 Repetitive Stereotypic Behavior Mood Problems 53.9%, 55 3%, 3 44 46.1%, 47 4%, 4 51 Hyperactivity 43.1%, 44 6%, 6 52 Self Injurious Behavior Difficulty Making Friends Difficulty Nonverbal Behaviors Unusual Eye Gaze 41.2%, 42 1%, 1 59 38.2%, 39 6%, 6 57 37.3%, 38 2%, 2 62 37.3%, 38 2%, 2 62 OCD 24.5%, 25 5%, 5 72 Depression Delusions Bipolar Disorder Hallucinations Psychosis 8 7%, 7 87 7 3%, 3 92 5 6%, 6 91 3 2%, 2 97 1 2%, 2 99 Total Complete: 85 Surveys still Needed: 19 Yes Unsure No

11. Symptoms reported in Growth Domain 0 20 40 60 80 100 Short Stature 76.9%, 80 3%, 3 21 Undergrowth 61.5%, 64 1 39 Growth Hormone Deficiency 13.5%, 14 17%, 17 73 Obesity 7 97 General Overgrowth 4 1 99 Uneven Growth 1 103 Total Complete: 87 Surveys still Needed: 17 Yes Unsure No

13. Symptoms reported in Digestive System Domain 0 10 20 30 40 50 60 70 80 90 Feeding Difficulties 61.7%, 58 36 Constipation 57.4%, 54 40 Esophagus Issues 31.9%, 30 1 63 Stomach Issues 25.5%, 24 70 Defecation Issues 19.1%, 18 3%, 3 73 Dysmotility Issues 16%, 15 2%, 2 77 Intestine Issues 7.4%, 7 5%, 5 82 Liver Issues 4 90 Anus Issues 2 1 91 Total Complete: 69 Surveys still Needed: 27 Yes Unsure No

15. Symptoms reported in Oral Health Domain 0 10 20 30 40 50 60 70 80 90 Malocclusion 42.2%, 38 5 47 Misalignment Teeth 22.2%, 20 4 66 Bruxism 21.1%, 19 2 69 Abnormality Baby Teeth 11.1%, 10 2 78 Unusual Number Teeth 11.1%, 10 4 76 Gingivitis 8.9%, 8 1 81 Abormality Dental Root 6 6 78 Malformed Teeth 6 2 82 Fragile Teeth 5 1 84 Gum Disease 4 1 85 Oral Herpes 1 89 Total Complete: 67 Surveys still Needed: 31 Yes Unsure No

17. Symptoms reported in Eyes and Vision Domain 0 10 20 30 40 50 60 70 80 90 Abnormal Eye Movement 38.4%, 38 1 60 Ptosis 28.3%, 28 2 69 Nearsightedness 22.2%, 22 1 76 Farsightedness 19.2%, 19 1 79 Visual Impairment 10.1%, 10 2 87 Major Vision Issues 8.1%, 8 91 Abnormal Optic Nerve 5 2 92 Abnormality Lens 4 1 94 Abnormality Retina 3 1 95 Abnormal Eye Size 1 2 96 Total Complete: 70 Surveys still Needed: 22 Yes Unsure No

19. Symptoms reported in Muscles Domain 0 20 40 60 80 Abnormal Muscle Function 59.1%, 55 1 37 Issue Muscle Arms Legs 32.3%, 30 3 60 Abnormal Facial Muscles 23.7%, 22 1 70 Issue Neck Muscle 17.2%, 16 1 76 Abnormal Muscles Back 9.7%, 9 4 80 Issue Muscle Chest 5 4 84 Abnormal Skeletal Muscle 1 1 91 Issue Nerves Connected Muscles 1 6 86 Yes Unsure No Total Complete: 62 Surveys still Needed: 28

21. Symptoms reported in Mother's Pregnancy Domain 0 20 40 60 80 100 Delivery Complication 19.8%, 20 2 79 Maternal Health Problem 11.9%, 12 1 88 Prematurity 11.9%, 12 2 87 Decreased Fetal Movement 8.9%, 9 2 90 Umbilical Cord Issue 5 2 94 Amniotic Fluid Issue 4 1 96 Placental Issue 4 1 96 Pregnancy Exposure 3 1 97 Total Complete: 48 Surveys still Needed: 20 Yes Unsure No

22. Symptoms reported in Head, Face, and Neck Domain 0 10 20 30 40 50 60 70 80 90 Abnormal Inside Mouth 30.6%, 30 68 Oral Dysphagia 18.4%, 18 80 Abnormal Neck 16.3%, 16 1 81 Abnormal Hair 13.3%, 13 85 Abnormal Nose 13.3%, 13 2 83 Abnormal Outside Mouth 11.2%, 11 87 Abnormal Chin 9.2%, 9 1 88 Total Complete: 44 Surveys still Needed: 23 Yes Unsure No

24. Symptoms reported in Bones Domain 0 20 40 60 80 100 Flexible Joints 19.8%, 22 1 88 Curvature Spine 12.6%, 14 97 Hip Dysplasia 11.7%, 13 1 97 Abnormality Bones Arms Legs 10.8%, 12 99 Finger Toe Differences 9.0%, 10 1 100 Skeletal Dysplasia 6 1 104 Pectus Excavatum 5 1 105 Abnormality Foot 2 1 108 Abnormality Hand 2 1 108 Frequent Broken Bones 2 1 108 Osteoporosis 1 2 108 Yes Unsure No Total Complete: 49 Surveys still Needed: 10

26. Symptoms reported in Ears and Hearing Domain 0 20 40 60 80 100 Abnormal Ear 11.4%, 12 93 Hyperacusis 8.6%, 9 2 94 Conductive Hearing Loss 7 3 95 Vertigo 3 3 99 Ringing Ears 1 2 102 SNHL 1 104 Total Complete: 35 Surveys still Needed: 16 Yes Unsure No

28. Symptoms reported in Kidney, Bladder, and Genitals Domain 0 20 40 60 80 100 Issue Kidney Structure 14.5%, 16 94 Abnormal Bladder 10.0%, 11 99 Issue Kidney Function 10.0%, 11 99 Abnormal Genitalia Function 3 1 106 Female Sex Organ Disorder 2 1 107 Yes Unsure No Total Complete: 41 Surveys still Needed: 11

30. Symptoms reported in Lungs and Breathing Domain 0 20 40 60 80 100 Abnormal Breathing Patterns 18.9%, 20 86 Asthma 15.1%, 16 90 Abnormal Upper Respiratory 7.5%, 8 98 Decreased Pulmonary Function 5 101 COPD 2 1 103 Respiratory Abnormality 2 1 103 Respiratory Insufficiency 1 105 Yes Unsure No Total Complete: 34 Surveys still Needed: 15

32. Symptoms reported in Immune System Domain 0 20 40 60 80 100 Recurrent Infections 13.3%, 14 1 90 Immunodeficiency 9.5%, 10 95 Abnormal Inflammatory Response 3 102 Autoimmune Disorder 1 1 103 Yes Unsure No Total Complete: 32 Surveys still Needed: 16

34. Symptoms reported in Hormone and Endocrine Domain 0 20 40 60 80 100 10.7%, 11 13%, 13 79 Growth Hormone Deficiency 4 1 98 Hypothyroidism 3 2 98 Early Puberty 1 1 101 Delayed Puberty 1 1 101 Hyperthyroidism 1 1 101 Type 2 Diabetes Yes Unsure No Total Complete: 35 Surveys still Needed: 18

36. For more information: www.wssfoundation.org or info@wssfoundation.org To participate, enroll at: wss.rare-x.org