Information on TLIND
Name: T-cell lymphopenia with or without nail dystrophy, AD | Acronym: TLIND
Alt. names: FOXN1 haploinsufficiency
Gene: FOXN1 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 71 | First reported in: 2005
Last updated on: 2023-04-01 by Xiao P. Peng
Description
To date, 61 patients from 58 families have been described with heterozygous loss-of-function FOXN1 variants resulting in FOXN1 haploinsufficiency associated with low TREC levels and T cell lymphopenia at birth that progressively improves with age (PMID: 15897400, 31566583, 31447097). Nail dystrophy, recurrent sinorespiratory tract infections (predominantly viral), evidence of thymic hypoplasia or aplasia on imaging, dental caries, dermatitis and skin rashes, and hair abnormalities were the most common findings. A minority of patients also suffered from recurrent GI infections and mucocutaneous candidiasis. Immunophenotyping was notable for persistent lymphopenia during infancy affecting predominantly CD8+ T cells, decreased lymphocyte proliferative responses to mitogens, and abnormal numbers of B and NK cells in a minority of patients. One or few patients additionally had intellectual disability, failure-to-thrive, variable inflammatory findings, and congenital anomalies such as ventricular septal defects, polydactyly, Arnold-Chiari malformation, and tracheoesophageal fistula. Most adults showed normal CD4+ T cell counts but a lower than normal proportion of naive CD4+ T cells, suggesting that normalization of total CD4+ T cell count with age is contributed by homeostatic proliferation.
Management
Anti-microbial prophylaxis and early and aggressive treatment of infections may be beneficial. HSCT is unlikely to be a curative treatment given the thymus-intrinsic defect. Indeed, of the three patients receiving HSCT before molecular diagnosis, two remained T cell lymphopenic after transplant despite successful engraftment and a third died of transplant-related complications 2 years post-HSCT. Given the normalization of T cell lymphopenia over time, it remains to be seen whether thymic transplant may be needed in severe cases.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Lymphopenia |
66 (97.1%) | 2 (2.9%) | 0 (0.0%) |
| 2 | Reduced T cell count |
66 (97.1%) | 2 (2.9%) | 0 (0.0%) |
| 3 | Abnormal T cell count |
66 (97.1%) | 2 (2.9%) | 0 (0.0%) |
| 4 | Abnormality of the nail |
32 (47.1%) | 33 (48.5%) | 3 (4.4%) |
| 5 | Nail dystrophy |
32 (47.1%) | 33 (48.5%) | 3 (4.4%) |
| 6 | Abnormal lymphocyte count |
24 (35.3%) | 5 (7.4%) | 39 (57.4%) |
| 7 | Recurrent upper respiratory tract infections |
19 (27.9%) | 0 (0.0%) | 49 (72.1%) |
| 8 | Increased inflammatory response |
15 (22.1%) | 1 (1.5%) | 52 (76.5%) |
| 9 | Recurrent respiratory infections |
13 (19.1%) | 0 (0.0%) | 55 (80.9%) |
| 10 | Aplasia/Hypoplasia of the thymus |
13 (19.1%) | 1 (1.5%) | 54 (79.4%) |
| 11 | Dermatitis |
11 (16.2%) | 2 (2.9%) | 55 (80.9%) |
| 12 | (unusual) Respiratory tract infection |
9 (13.2%) | 30 (44.1%) | 29 (42.7%) |
| 13 | Eczema |
9 (13.2%) | 0 (0.0%) | 59 (86.8%) |
| 14 | Carious teeth |
7 (10.3%) | 0 (0.0%) | 61 (89.7%) |
| 15 | Lung disease |
7 (10.3%) | 2 (2.9%) | 59 (86.8%) |
| 16 | Thymus aplasia |
7 (10.3%) | 0 (0.0%) | 61 (89.7%) |
| 17 | Abnormal NK cell count |
7 (10.3%) | 28 (41.2%) | 33 (48.5%) |
| 18 | Pneumonia |
7 (10.3%) | 2 (2.9%) | 59 (86.8%) |
| 19 | Abnormality of dental structure |
7 (10.3%) | 0 (0.0%) | 61 (89.7%) |
| 20 | Thymus hypoplasia |
6 (8.8%) | 1 (1.5%) | 61 (89.7%) |
| 21 | Alopecia |
6 (8.8%) | 6 (8.8%) | 56 (82.4%) |
| 22 | Abnormal hair quantity |
6 (8.8%) | 6 (8.8%) | 56 (82.4%) |
| 23 | Past medical history |
5 (7.4%) | 0 (0.0%) | 63 (92.7%) |
| 24 | Hematopoietic stem cell transplantation |
5 (7.4%) | 0 (0.0%) | 63 (92.7%) |
| 25 | Past surgical history |
5 (7.4%) | 0 (0.0%) | 63 (92.7%) |
| 26 | Abnormal lymphoproliferation |
5 (7.4%) | 8 (11.8%) | 55 (80.9%) |
| 27 | Abnormal paranasal sinus morphology |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 28 | Sinusitis |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 29 | Otitis media |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 30 | Abnormality of the middle ear |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 31 | Decreased lymphocyte proliferation in response to mitogens |
4 (5.9%) | 8 (11.8%) | 56 (82.4%) |
| 32 | Abnormally low T cell receptor excision circle level |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 33 | Reduced NK cell number |
4 (5.9%) | 31 (45.6%) | 33 (48.5%) |
| 34 | Reduced number of B cells |
4 (5.9%) | 35 (51.5%) | 29 (42.7%) |
| 35 | Enteropathy |
4 (5.9%) | 3 (4.4%) | 61 (89.7%) |
| 36 | Diarrhea |
4 (5.9%) | 3 (4.4%) | 61 (89.7%) |
| 37 | (unusual) Viral infection |
4 (5.9%) | 0 (0.0%) | 64 (94.1%) |
| 38 | Abnormal B cell count |
4 (5.9%) | 35 (51.5%) | 29 (42.7%) |
| 39 | Abdominal symptom |
4 (5.9%) | 3 (4.4%) | 61 (89.7%) |
| 40 | Atopic dermatitis |
3 (4.4%) | 0 (0.0%) | 65 (95.6%) |
| 41 | RSV bronchiolitis |
3 (4.4%) | 0 (0.0%) | 65 (95.6%) |
| 42 | Abnormal hair morphology |
3 (4.4%) | 10 (14.7%) | 55 (80.9%) |
| 43 | Decreased body weight |
3 (4.4%) | 3 (4.4%) | 62 (91.2%) |
| 44 | Atopy |
3 (4.4%) | 0 (0.0%) | 65 (95.6%) |
| 45 | Failure to thrive |
3 (4.4%) | 3 (4.4%) | 62 (91.2%) |
| 46 | Bronchiolitis |
3 (4.4%) | 0 (0.0%) | 65 (95.6%) |
| 47 | Abnormality of skin adnexa morphology |
3 (4.4%) | 10 (14.7%) | 55 (80.9%) |
| 48 | Increased NK cell number |
3 (4.4%) | 0 (0.0%) | 65 (95.6%) |
| 49 | Unusual infection by anatomical site |
2 (2.9%) | 28 (41.2%) | 38 (55.9%) |
| 50 | Persistent viremia |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 51 | Neonatal omphalitis |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 52 | Recurrent lower respiratory tract infections |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 53 | Gastrointestinal inflammation |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 54 | Severe Norovirus infection |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 55 | Mucocutaneous candidiasis |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 56 | Psoriasiform dermatitis |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 57 | Diabetes mellitus |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 58 | Type I diabetes mellitus |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 59 | Ventricular septal defect |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 60 | Candidiasis |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 61 | Autoimmunity |
2 (2.9%) | 3 (4.4%) | 63 (92.7%) |
| 62 | Fine hair |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 63 | Recurrent viral infections |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 64 | (unusual) Cytomegalovirus infection |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 65 | Immune dysregulation |
2 (2.9%) | 3 (4.4%) | 63 (92.7%) |
| 66 | Abnormal ventricular septum morphology |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 67 | Abnormality of hair texture |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 68 | Skin rash |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 69 | Abnormality of the umbilical cord |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 70 | Abnormality of immune system physiology |
2 (2.9%) | 3 (4.4%) | 63 (92.7%) |
| 71 | Functional abnormality of the gastrointestinal tract |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 72 | Persistent EBV viremia |
2 (2.9%) | 0 (0.0%) | 66 (97.1%) |
| 73 | Red eye |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 74 | Abnormality of cardiovascular system electrophysiology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 75 | Abnormal B cell proliferation |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 76 | Colitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 77 | (unusual) Skin infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 78 | Increased blood pressure |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 79 | Abnormal conjunctiva morphology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 80 | Recurrent viral upper respiratory tract infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 81 | Eosinophilia |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 82 | B-cell lymphoma |
1 (1.5%) | 4 (5.9%) | 63 (92.7%) |
| 83 | Thrombocytopenia |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 84 | Rosacea |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 85 | Inflammatory abnormality of the eye |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 86 | Malabsorption |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 87 | Osteoporosis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 88 | Seborrheic dermatitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 89 | Abnormality of prenatal development or birth |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 90 | Unusual virus reactivation |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 91 | Abnormal joint morphology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 92 | Intellectual disability |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 93 | Severe viral infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 94 | Abnormality of toe |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 95 | Foot polydactyly |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 96 | Abnormal esophagus morphology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 97 | Arnold-Chiari malformation |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 98 | Cerebellar malformation |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 99 | Leukocytosis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 100 | Tracheoesophageal fistula |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 101 | (unusual) Bacterial infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 102 | Recurrent infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 103 | Recurrent enteroviral infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 104 | Abnormal trachea morphology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 105 | Viral hepatitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 106 | Melanoma |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 107 | Pituitary adenoma |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 108 | Integumentary and exocrine system abnormality |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 109 | Skeletal system abnormality |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 110 | Skin abnormality |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 111 | Anemia |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 112 | Herpes Simplex Virus Infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 113 | Abnormal immunoglobulin level |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 114 | Conjunctivitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 115 | Reduced bone mineral density |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 116 | Enterocolitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 117 | (unusual) Epstein-Barr virus infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 118 | Recurrent Haemophilus influenzae infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 119 | Recurrent gram-negative bacterial infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 120 | Hepatitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 121 | Premature birth |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 122 | Hepatitis B |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 123 | Encephalitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 124 | Cardiomyopathy |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 125 | Arrhythmia |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 126 | Recurrent staphylococcal infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 127 | Non-Hodgkin lymphoma |
1 (1.5%) | 4 (5.9%) | 63 (92.7%) |
| 128 | proteinuria |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 129 | Abnormal retinal vascular morphology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 130 | Hypogammaglobulinemia |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 131 | Duplication involving bones of the feet |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 132 | Bronchitis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 133 | Arthritis |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 134 | Abnormal eosinophil count |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 135 | Abnormal platelet count |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 136 | Salmonella infection |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 137 | Polydactyly |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 138 | Molluscum contagiosum |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 139 | Erythema |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 140 | Erythroderma |
1 (1.5%) | 4 (5.9%) | 63 (92.7%) |
| 141 | Reduced proportion of CD4 T cells |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 142 | Abnormality of skin physiology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 143 | Hypertension |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 144 | Abnormality of the urinary system physiology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 145 | Abnormality of higher mental function |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 146 | Neoplasm of the anterior pituitary |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 147 | Neoplasm by histology |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 148 | Abnormality of erythrocytes |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 149 | Abnormal proportion of CD4 T cells |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 150 | Recurrent urinary tract infections |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 151 | Retinal vein occlusion |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 152 | Neurodevelopmental abnormality |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 153 | Abnormal urine protein level |
1 (1.5%) | 0 (0.0%) | 67 (98.5%) |
| 154 | Epicanthus |
0 (0.0%) | 5 (7.4%) | 63 (92.7%) |
| 155 | Abnormal eyelid morphology |
0 (0.0%) | 5 (7.4%) | 63 (92.7%) |
| 156 | Abnormality of the thymus |
0 (0.0%) | 2 (2.9%) | 66 (97.1%) |
| 157 | Abnormality of the lymphatic system |
0 (0.0%) | 2 (2.9%) | 66 (97.1%) |
| 158 | Endocrine system abnormality |
0 (0.0%) | 2 (2.9%) | 66 (97.1%) |
| 159 | Unusual infection |
0 (0.0%) | 1 (1.5%) | 67 (98.5%) |
Age of onset
distribution
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Acyclovir [Antiviral agent] |
Unspecified (1) for unspecified |
| Intravenous immunoglobulin therapy | Unspecified (2) for Hypogammaglobulinemia; unspecified |
| Antibiotics | Unspecified (1) for unspecified |
| Hematopoietic stem cell transplantation | Unspecified (5) for unspecified. Negative/Bad (1) for unspecified |
| Co-trimoxazole [Antibiotics] |
Unspecified (1) for unspecified |
| Antiviral agent | Unspecified (1) for unspecified |
71 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 102911 |
M | 215012 | 1 | 0 | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |||
| 102912 |
M | 215013 | 2 | 0 | PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)] | |||
| 102913 |
M | 215014 | 1 | 0 | PMID:31447097 [P3] | |||
| 102915 |
F | 215016 | 4 | 0 | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |||
| 102916 |
F | 215017 | 3 | 0 | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |||
| 102917 |
M | 215018 | 1 | 0 | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |||
| 102918 |
F | 215019 | 2 | 0 | PMID:31447097 [P7]; PMID:37419334 [P7(22)] | |||
| 102919 |
F | 215020 | 3 | 0 | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |||
| 102920 |
F | 215021 | 4 | 0 | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |||
| 102921 |
M | 215022 | 2 | 0 | PMID:31447097 [P10] | |||
| 102922 |
F | 215023 | 2 | 0 | PMID:31447097 [P11] | |||
| 102923 |
F | 215024 | 2 | 0 | PMID:31447097 [P12] | |||
| 102924 |
M | 215025 | 4 | 0 | PMID:31447097 [P13] | |||
| 102925 |
M | 215026 | 3 | 0 | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |||
| 102926 |
M | 215027 | 2 | 0 | PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)] | |||
| 102927 |
M | 215028 | 1 | 0 | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |||
| 102928 |
M | 215029 | 2 | 0 | PMID:31447097 [P17] | |||
| 102929 |
F | 215030 | 1 | 0 | PMID:31447097 [P18]; PMID:37419334 [P18(22)] | |||
| 102930 |
F | 215031 | 4 | 0 | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |||
| 102931 |
F | 215032 | 1 | 0 | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |||
| 102932 |
M | 215033 | 2 | 0 | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |||
| 102933 |
M | 215034 | 2 | 0 | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |||
| 102934 |
F | 215035 |
9 | 0 | Definitive | Belarus | Caucasian | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
| 102935 |
M | 215035 |
3 | 0 | Definitive | Belarus | Caucasian | PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)] |
| 102936 |
M | 215037 | 4 | 0 | PMID:31447097 [P25]; PMID:37419334 [P25(22)] | |||
| 102937 |
F | 215038 | 22 | PMID:31447097 [P26] | ||||
| 102938 |
F | 215013 | 30 | PMID:31447097 [Fam.P2:I.1(P27)] | ||||
| 102939 |
F | 215027 | 30 | PMID:31447097 [Fam.P15:I.1(P28)] | ||||
| 102940 |
M | 215039 | 29 | Italy | Italian | PMID:31447097 [P31]; PMID:37419334 [P31(22)] | ||
| 102941 |
F | 215040 | 38 | Italy | Italian | PMID:31447097 [P32]; PMID:37419334 [P32(22)] | ||
| 102942 |
F | 215041 | 39 | Italy | Italian | PMID:31447097 [P33]; PMID:37419334 [P33(22)] | ||
| 102943 |
F | 215042 | 40 | Italy | Italian | PMID:31447097 [P34]; PMID:37419334 [P34(22)] | ||
| 102944 |
F | 215043 | 41 | Italy | Italian | PMID:31447097 [P35]; PMID:37419334 [P35(22)] | ||
| 102945 |
F | 215044 | 42 | Italy | Italian | PMID:31447097 [P36]; PMID:37419334 [P36(22)] | ||
| 102946 |
F | 215045 | 45 | Italy | Italian | PMID:31447097 [P37]; PMID:37419334 [P37(22)] | ||
| 102947 |
F | 215046 | 48 | Italy | Italian | PMID:31447097 [P38]; PMID:37419334 [P38(22)] | ||
| 102948 |
F | 215047 | 53 | Italy | Italian | PMID:31447097 [P39]; PMID:37419334 [P39(22)] | ||
| 102949 |
M | 215048 | 55 | Italy | Italian | PMID:31447097 [P40]; PMID:37419334 [P40(22)] | ||
| 102950 |
M | 215049 | 57 | Italy | Italian | PMID:31447097 [P41]; PMID:37419334 [P41(22)] | ||
| 102951 |
M | 215050 | 58 | Italy | Italian | PMID:31447097 [P42]; PMID:37419334 [P42(22)] | ||
| 102952 |
F | 215051 | 59 | Italy | Italian | PMID:31447097 [P43]; PMID:37419334 [P43(22)] | ||
| 102953 |
F | 215052 | 59 | Italy | Italian | PMID:31447097 [P44]; PMID:37419334 [P44(22)] | ||
| 102954 |
M | 215053 | 60 | Italy | Italian | PMID:31447097 [P45]; PMID:37419334 [P45(22)] | ||
| 102955 |
M | 215054 | 62 | Italy | Italian | PMID:31447097 [P46]; PMID:37419334 [P46(22)] | ||
| 102956 |
F | 215055 | 69 | Italy | Italian | PMID:31447097 [P47]; PMID:37419334 [P47(22)] | ||
| 102957 |
F | 215056 | 40 | PMID:31447097 [P29] | ||||
| 102958 |
F | 215020 | 40 | PMID:31447097 [Fam.P8:I.1(P30)] | ||||
| 102968 |
U | 215060 | 0 | U.S.A. | North American | PMID:31566583 [P3]; PMID:37419334 [P3] | ||
| 102969 |
U | 215061 | 0 | U.S.A. | North American | PMID:31566583 [P4]; PMID:37419334 [P4] | ||
| 102970 |
U | 215062 | 0 | U.S.A. | North American | PMID:31566583 [P5]; PMID:37419334 [P5] | ||
| 102971 |
U | 215063 | 0 | U.S.A. | North American | PMID:31566583 [P6]; PMID:37419334 [P6] | ||
| 102972 |
U | 215064 | 0 | U.S.A. | North American | PMID:31566583 [P7]; PMID:37419334 [P7] | ||
| 102973 |
U | 215065 | 0 | U.S.A. | North American | PMID:31566583 [P8]; PMID:37419334 [P8] | ||
| 102974 |
U | 215066 | 0 | U.S.A. | North American | PMID:31566583 [P9]; PMID:37419334 [P9] | ||
| 102975 |
U | 215067 | 0 | U.S.A. | North American | PMID:31566583 [P10]; PMID:37419334 [P10] | ||
| 102976 |
U | 215068 | 0 | U.S.A. | North American | PMID:31566583 [P11]; PMID:37419334 [P11] | ||
| 102977 |
U | 215069 | 0 | U.S.A. | North American | PMID:31566583 [P12]; PMID:37419334 [P12] | ||
| 102978 |
U | 215070 | 0 | U.S.A. | North American | PMID:31566583 [P13]; PMID:37419334 [P13] | ||
| 102979 |
U | 215071 | 0 | U.S.A. | North American | PMID:31566583 [P14]; PMID:37419334 [P14] | ||
| 102980 |
U | 215072 | 0 | U.S.A. | North American | PMID:31566583 [P15]; PMID:37419334 [P15] | ||
| 102981 |
U | 215073 | 0 | U.S.A. | North American | PMID:31566583 [P16]; PMID:37419334 [P16] | ||
| 106153 |
F | 215035 |
61 | Definitive | Belarus | Caucasian | PMID:33464451 [Fam.P14:I.1(P17)]; PMID:37419334 [P17(22)] | |
| 106155 |
M | 215035 |
38 | Definitive | Belarus | Caucasian | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] | |
| 106156 |
M | 215035 |
0 | 0 | Definitive | Belarus | Caucasian | PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(27)] |
| 106332 |
F | 215988 |
1 | Definitive | United Kingdom | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | ||
| 106334 |
M | 215988 |
30 | Definitive | United Kingdom | PMID:37419334 [P3(43)(I.2)]; PMID:34860543 [Fam.1:I.2] | ||
| 106335 |
F | 215988 |
4 | Definitive | United Kingdom | PMID:37419334 [P2(43)(II.1)]; PMID:34860543 [Fam.1:II.1] | ||
| 106338 |
M | 215991 |
0 | Possible | United Kingdom | PMID:34860543 [Fam.2:II.2(P2)] | ||
| 106813 |
U | 216159 | Definitive | PMID:37419334 [P17] | ||||
| 106814 |
U | 216160 | Definitive | PMID:37419334 [P18] | ||||
| 106815 |
U | 216161 | Definitive | PMID:37419334 [P19] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).