TaoMedAI/RareMedData huggingface dataset:
Gene: SHPK
Phenotype: High forehead (HP:0000348)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Breech presentation (HP:0001623)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: SHPK
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Isolated SHPK deficiency; Isolated sedoheptulokinase deficiency (ORPHA:440713)
Gene: FRRS1L
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Seizure (HP:0001250)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: EEG with frontal focal spike waves (HP:0012010)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Dystonia (HP:0001332)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Rigidity (HP:0002063)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Aphasia (HP:0002381)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Hypokinesia (HP:0002375)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Motor deterioration (HP:0002333)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Clumsiness (HP:0002312)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Gene: FRRS1L
Phenotype: Speech apraxia (HP:0011098)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: FRRS1L
Phenotype: EEG with centrotemporal focal spike waves (HP:0012557)
Associated disease: DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWSS syndrome; CSWS; Developmental and epileptic encephalopathy with spike-wave activation in sleep (ORPHA:725)
Gene: NPAP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: NPAP1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)