TaoMedAI/RareMedData huggingface dataset:
Gene: SIGMAR1
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Dystonia (HP:0001332)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Chorea (HP:0002072)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Clonus (HP:0002169)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Cachexia (HP:0004326)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Arm dystonia (HP:0031960)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
Gene: SIGMAR1
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Upper-limb joint contracture (HP:0100360)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SIGMAR1
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: SIGMAR1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (OMIM:605726)
Gene: BET1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
Gene: BET1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
Gene: BET1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
Gene: BET1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
Gene: CWC27
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Visual field defect (HP:0001123)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Hypoautofluorescent retinal lesion (HP:0025159)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: High anterior hairline (HP:0009890)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Renal cyst (HP:0000107)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Renal cyst (HP:0000107)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Congenital onset (HP:0003577)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Bilateral superior vena cava (HP:0033379)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Ectopic testis (HP:6000460)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Broad columella (HP:0010761)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Broad columella (HP:0010761)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Chiari malformation (HP:0002308)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Abnormality of pattern visual evoked potentials (HP:0030455)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Short metacarpal (HP:0010049)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Short stature (HP:0004322)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Short stature (HP:0004322)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Antenatal onset (HP:0030674)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Sparse hair (HP:0008070)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Ichthyosis (HP:0008064)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Alopecia (HP:0001596)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Alopecia (HP:0001596)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Macrocephaly (HP:0000256)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Low-set ears (HP:0000369)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Low-set ears (HP:0000369)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Micrognathia (HP:0000347)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Micrognathia (HP:0000347)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Heart murmur (HP:0030148)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Abnormal vena cava morphology (HP:0005345)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Macrotia (HP:0000400)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Macrotia (HP:0000400)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Small nail (HP:0001792)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Small nail (HP:0001792)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Pes planus (HP:0001763)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Pes planus (HP:0001763)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Hallux valgus (HP:0001822)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)