TaoMedAI/RareMedData huggingface dataset:
Gene: GDAP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Frequent falls (HP:0002359)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Segmental peripheral demyelination (HP:0007107)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Inability to walk by childhood/adolescence (HP:0006915)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Denervation of the diaphragm (HP:0009109)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: DPM3
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Babinski sign (HP:0003487)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Adult onset (HP:0003581)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Chest pain (HP:0100749)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Myopathy (HP:0003198)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Myopathy (HP:0003198)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Decreased sialylation of O-linked protein glycosylation (HP:0012363)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: DPM3
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Gene: DPM3
Phenotype: Pes planus (HP:0001763)
Associated disease: CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type Io; CDG syndrome type Io; CDG1O; Congenital disorder of glycosylation type 1o; DPM3-CDG (ORPHA:263494)
Gene: DPM3
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Gene: SOX18
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Plantar telangiectasia (HP:0100870)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Abnormal renal glomerulus morphology (HP:0000095)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)