TaoMedAI/RareMedData huggingface dataset:
Gene: RAB18
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Congenital onset (HP:0003577)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Nystagmus (HP:0000639)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Miosis (HP:0000616)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Short stature (HP:0004322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Ankle clonus (HP:0011448)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Short nose (HP:0003196)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Short nose (HP:0003196)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Kyphosis (HP:0002808)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Microcephaly (HP:0000252)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: High palate (HP:0000218)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Micrognathia (HP:0000347)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Short philtrum (HP:0000322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Macrotia (HP:0000400)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Macrotia (HP:0000400)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Microcornea (HP:0000482)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Microcornea (HP:0000482)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cataract (HP:0000518)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Cataract (HP:0000518)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB18
Phenotype: Developmental cataract (HP:0000519)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Microphthalmia (HP:0000568)
Associated disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Gene: RAB18
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RPIA
Phenotype: Elevated brain polyol compounds by MRS (HP:0034894)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Seizure (HP:0001250)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Ataxia (HP:0001251)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Dysarthria (HP:0001260)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Spasticity (HP:0001257)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased CSF xylitol concentration (HP:0410075)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased CSF ribose concentration (HP:0410073)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased level of xylitol in urine (HP:0410074)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased CSF ribitol concentration (HP:0410071)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased level of ribose in urine (HP:0410072)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased level of ribitol in urine (HP:0410070)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased level of D-threitol in urine (HP:0410059)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased level of D-threitol in plasma (HP:0410057)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Increased CSF D-threitol concentration (HP:0410058)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Decreased level of erythritol in urine (HP:0410055)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Decreased CSF erythritol concentration (HP:0410056)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Incoordination (HP:0002311)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Nystagmus (HP:0000639)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: RPIA
Phenotype: Elevated circulating ribitol concentration (HP:0025550)
Associated disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Gene: DKK1
Phenotype: Adult onset sensorineural hearing impairment (HP:0008615)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Stiff neck (HP:0025258)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Bone pain (HP:0002653)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Abnormality of the musculature of the lower limbs (HP:0001437)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Anteriorly placed odontoid process (HP:0004608)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Myelopathy (HP:0002196)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Abnormality of the clivus (HP:0010558)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Abnormal vestibulocochlear nerve morphology (HP:0009591)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Vertigo (HP:0002321)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Headache (HP:0002315)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Abnormality of the twelfth cranial nerve (HP:0010826)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Abnormality of the eleventh cranial nerve (HP:0010825)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Functional abnormality of the inner ear (HP:0011389)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Diplopia (HP:0000651)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Photophobia (HP:0000613)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Basilar impression (HP:0005758)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Small posterior fossa (HP:0040010)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Neck pain (HP:0030833)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Kyphosis (HP:0002808)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Basilar invagination (HP:0012366)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Tinnitus (HP:0000360)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DKK1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: DKK1
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Arnold-Chiari malformation type I; Chiari malformation type I; Chiari malformation type 1; Arnold-Chiari malformation type 1 (ORPHA:268882)
Gene: DUX4L1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Seizure (HP:0001250)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Steppage gait (HP:0003376)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Camptocormia (HP:0100595)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4L1
Phenotype: Frequent falls (HP:0002359)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)