Konjenital musküler distrofi
Doğumda veya bebeklik döneminde başlayan bir musküler distrofi grubu; FKRP, FKTN ve POMT1/2 ile ilişkili formlar gibi distroglikanopatileri içerir.
Analiz edilen genler
Diğer adları
CMD; congenital MD; MDC
75 ilgili alt tip içerir ↓Alt tipleri gizle ↑
- arthrogryposis due to muscular dystrophy
- autosomal recessive limb-girdle muscular dystrophy type 2I
- autosomal recessive limb-girdle muscular dystrophy type 2K
- autosomal recessive limb-girdle muscular dystrophy type 2M
- autosomal recessive limb-girdle muscular dystrophy type 2N
- autosomal recessive limb-girdle muscular dystrophy type 2O
- autosomal recessive limb-girdle muscular dystrophy type 2P
- autosomal recessive limb-girdle muscular dystrophy type 2T
- autosomal recessive limb-girdle muscular dystrophy type 2U
- autosomal recessive myogenic arthrogryposis multiplex congenita
- Bethlem myopathy
- Bethlem myopathy 1A
- Bethlem myopathy 1B
- Bethlem myopathy 1C
- Bethlem myopathy 2
- collagen 6-related congenital muscular dystrophy
- congenital merosin-deficient muscular dystrophy 1A
- congenital muscular dystrophy 1B
- congenital muscular dystrophy caused by variation in POMGNT2
- congenital muscular dystrophy due to integrin alpha-7 deficiency
- congenital muscular dystrophy due to LMNA mutation
- congenital muscular dystrophy with cataracts and intellectual disability
- congenital muscular dystrophy with hyperlaxity
- congenital muscular dystrophy with intellectual disability
- congenital muscular dystrophy with intellectual disability and severe epilepsy
- congenital muscular dystrophy without intellectual disability
- congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- congenital myasthenic syndrome 10
- congenital myopathy 28 with rigid spine
- congenital myopathy 2b, severe infantile, autosomal recessive
- congenital myopathy 3 with rigid spine
- congenital myopathy, Paradas type
- DPM3-congenital disorder of glycosylation
- intermediate collagen VI-related muscular dystrophy
- limb-girdle muscular dystrophy due to POMK deficiency
- megaconial type congenital muscular dystrophy
- muscle-eye-brain disease
- muscle-eye-brain disease with bilateral multicystic leucodystrophy
- muscular dystrophy-dystroglycanopathy
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
- muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
- muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- muscular dystrophy-dystroglycanopathy type B5
- muscular dystrophy-dystroglycanopathy type B6
- muscular dystrophy-dystroglycanopathy, type A
- muscular dystrophy-dystroglycanopathy, type B
- muscular dystrophy-dystroglycanopathy, type C
- muscular dystrophy, congenital, with rapid progression
- muscular dystrophy, limb-girdle, autosomal recessive 29
- rigid spine syndrome
- SNUPN-related muscular dystrophy with or without multi-system involvement
- Ullrich congenital muscular dystrophy
- Ullrich congenital muscular dystrophy 1A
- Ullrich congenital muscular dystrophy 1B
- Ullrich congenital muscular dystrophy 1C
- Ullrich congenital muscular dystrophy 2
