| Individual ID |
00457407 |
| Associated disease |
BTHLM2 |
| Phenotype details |
Motor delay (HP:0001270); neonatal hypotonia (HP:0001319); decreased fetal movement (HP:0001558); intrauterine growth retardation (HP:0001511); oligohydramnios (HP:0001562); high, narrow palate (HP:0002705); hyperextensible skin (HP:0000974); palmoplantar cutis laxa (HP:0007517); pectus excavatum (HP:0000767); neck muscle weakness (HP:0000467); kyphoscoliosis (HP:0002751); bilateral knee contractures (HP:0034671); distal joint hypermobility (HP:0020152); respiratory insufficiency due to muscle weakness (HP:0002747); pelvic girdle muscle atrophy (HP:0008988); proximal lower limb amyotrophy (HP:0008956); distal lower limb amyotrophy (HP:0008944); soft, doughy skin (HP:0001027). |
| Diagnosis/Initial |
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B; UCMD1A/1B |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE; EDSMYP |
| Age/Examination |
00y23m (23 months) |
| Age/Diagnosis |
00y23m |
| Age/Onset |
00y |
| Phenotype/Onset |
Neonatal hypotonia (HP:0001319) |
| Protein |
deepsubs |
| Owner name |
Deepak Subramanian |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Deepak Subramanian |
| Date created |
2024-11-11 12:33:08 +01:00 (CET) |
| Date last edited |
2024-11-11 17:41:59 +01:00 (CET) |
