TaoMedAI/RareMedData huggingface dataset:
Gene: NEFL
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Difficulty running (HP:0009046)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Demyelinating sensory neuropathy (HP:0011402)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Demyelinating sensory neuropathy (HP:0011402)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: High palate (HP:0000218)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Extremely elevated creatine kinase (HP:0030235)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Restless legs (HP:0012452)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Pes cavus (HP:0001761)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Ptosis (HP:0000508)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEK1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Syndactyly (HP:0001159)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Motor delay (HP:0001270)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Thick hair (HP:0100874)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Y-shaped metacarpals (HP:0006042)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Bilateral postaxial polydactyly (HP:0006136)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Pachygyria (HP:0001302)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Wormian bones (HP:0002645)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Microglossia (HP:0000171)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Unilateral alveolar cleft of maxilla (HP:0410033)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Tachypnea (HP:0002789)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: MOHR SYNDROME (OMIM:252100)
Gene: NEK1
Phenotype: Apnea (HP:0002104)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Gene: NEK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Gene: NEK1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NEK1
Phenotype: Adactyly (HP:0009776)
Associated disease: Oral-facial-digital syndrome type 2; Mohr syndrome; OFD2; Orofaciodigital syndrome type 2 (ORPHA:2751)
Gene: NEK1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NEK1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)