Phenotype #0000345871

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 InternationalCreative Commons License
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)

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