TaoMedAI/RareMedData huggingface dataset:
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Steppage gait (HP:0003376)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Peripheral dysmyelination (HP:0003469)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Babinski sign (HP:0003487)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Postural tremor (HP:0002174)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Insidious onset (HP:0003587)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Recurrent coughing spasms (HP:0033362)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Frequent falls (HP:0002359)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Hypokinesia (HP:0002375)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Action tremor (HP:0002345)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Slowly progressive (HP:0003677)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Acute demyelinating polyneuropathy (HP:0007131)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Nystagmus (HP:0000639)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Genu valgum (HP:0002857)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D (OMIM:607791)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CMT1B; Charcot-Marie-Tooth disease type 1B (ORPHA:101082)
Gene: MPZ
Phenotype: Myelin tomacula (HP:0030175)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Persistent head lag (HP:0032988)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MPZ
Phenotype: Pes planus (HP:0001763)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 (OMIM:618184)
Gene: MPZ
Phenotype: Pes planus (HP:0001763)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Hammertoe (HP:0001765)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Hammertoe (HP:0001765)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B (OMIM:118200)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I (OMIM:607677)
Gene: MPZ
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J (OMIM:607736)
Gene: MRE11
Phenotype: Enlarged interhemispheric fissure (HP:0100953)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Horizontal jerk nystagmus (HP:0007286)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Dysarthria (HP:0001260)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Dystonia (HP:0001332)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Dystonia (HP:0001332)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Myoclonus (HP:0001336)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Dysmetria (HP:0001310)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Intention tremor (HP:0002080)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Chorea (HP:0002072)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Chorea (HP:0002072)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Frequent falls (HP:0002359)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Frequent falls (HP:0002359)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Progressive (HP:0003676)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Telangiectasia (HP:0001009)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)