TaoMedAI/RareMedData huggingface dataset:
Gene: MFN2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Central scotoma (HP:0000603)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Inability to walk by childhood/adolescence (HP:0006915)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Increased laxity of ankles (HP:0006460)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Kyphosis (HP:0002808)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Tinnitus (HP:0000360)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Restless legs (HP:0012452)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Anosmia (HP:0000458)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Pain (HP:0012531)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Color vision defect (HP:0000551)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Upper limb pain (HP:0012513)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF14
Phenotype: Poor speech (HP:0002465)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Ureteral hypoplasia (HP:0032464)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Blindness (HP:0000618)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Childhood onset (HP:0011463)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Microcephaly (HP:0000252)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Low-set ears (HP:0000369)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Micrognathia (HP:0000347)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Ureteral agenesis (HP:0012300)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Strabismus (HP:0000486)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: KIF14
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: MECKEL SYNDROME 12 (OMIM:616258)
Gene: KIF14
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: KIF14
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Gene: MAFB
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: MAFB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Seizure (HP:0001250)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)