TaoMedAI/RareMedData huggingface dataset:
Gene: MYMK
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Abducens palsy (HP:0006897)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Short stature (HP:0004322)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Myopathy (HP:0003198)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Myopathy (HP:0003198)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Short nose (HP:0003196)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Epicanthus (HP:0000286)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Epicanthus (HP:0000286)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Retrognathia (HP:0000278)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Microcephaly (HP:0000252)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: High palate (HP:0000218)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: High palate (HP:0000218)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Trismus (HP:0000211)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Growth delay (HP:0001510)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Growth delay (HP:0001510)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Long philtrum (HP:0000343)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Micrognathia (HP:0000347)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Micrognathia (HP:0000347)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Cataract (HP:0000518)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Ptosis (HP:0000508)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: MYMK
Phenotype: Ptosis (HP:0000508)
Associated disease: Myopathy-Moebius-Robin syndrome; Carey-Fineman-Ziter syndrome (ORPHA:1358)
Gene: MYMK
Phenotype: Glaucoma (HP:0000501)
Associated disease: CAREY-FINEMAN-ZITER SYNDROME (OMIM:254940)
Gene: USP27X
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
Gene: USP27X
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
Gene: USP27X
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
Gene: USP27X
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
Gene: KBTBD13
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Difficulty running (HP:0009046)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Myopathy (HP:0003198)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Gene: KBTBD13
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KBTBD13
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: UBAP1L
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: UBAP1L
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PTRHD1
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Postural tremor (HP:0002174)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Postural instability (HP:0002172)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Hypersomnia (HP:0100786)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Shuffling gait (HP:0002362)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Resting tremor (HP:0002322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Froment sign (HP:0032121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Freezing of gait (HP:0031825)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Amplification of sexual behavior (HP:5200321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Short attention span (HP:0000736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Restlessness (HP:0000711)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: PTRHD1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Gene: GDF6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Abnormal temporal bone morphology (HP:0009911)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)