TaoMedAI/RareMedData huggingface dataset:
Gene: ASNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Tremor (HP:0001337)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Clonus (HP:0002169)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Sleep apnea (HP:0010535)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Infantile onset (HP:0003593)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Esodeviation (HP:0020045)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Progressive (HP:0003676)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Blindness (HP:0000618)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Third trimester onset (HP:0034197)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Irritability (HP:0000737)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Microcephaly (HP:0000252)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Moderate to late preterm birth (HP:0025664)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Micrognathia (HP:0000347)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Macrotia (HP:0000400)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Delayed myelination (HP:0012448)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASNS
Phenotype: Long foot (HP:0001833)
Associated disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Gene: ASPA
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Poor speech (HP:0002465)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: CNS demyelination (HP:0007305)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Increased circulating N-acetylaspartic acid concentration (HP:0032273)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Increased CSF N-acetylaspartic acid concentration (HP:0032274)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Poor head control (HP:0002421)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Poor head control (HP:0002421)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Motor delay (HP:0001270)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Lethargy (HP:0001254)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Seizure (HP:0001250)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Seizure (HP:0001250)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Inability to walk (HP:0002540)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Absent speech (HP:0001344)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Poor suck (HP:0002033)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Vomiting (HP:0002013)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Opisthotonus (HP:0002179)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Infantile onset (HP:0003593)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Reduced aspartoacylase activity in cultured fibroblasts (HP:6000354)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Elevated urine N-acetylaspartic acid level (HP:0034649)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Elevated urine N-acetylaspartic acid level (HP:0034649)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Developmental regression (HP:0002376)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Nystagmus (HP:0000639)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Blindness (HP:0000618)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Blindness (HP:0000618)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Irritability (HP:0000737)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Weak cry (HP:0001612)
Associated disease: Severe Canavan disease; Neonatal Canavan disease; Infantile Canavan disease (ORPHA:314911)
Gene: ASPA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPA
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Juvenile Canavan disease; Mild Canavan disease (ORPHA:314918)
Gene: ASPA
Phenotype: Visual impairment (HP:0000505)
Associated disease: CANAVAN DISEASE (OMIM:271900)
Gene: ASPH
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Lens subluxation (HP:0001132)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Gene: ASPH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: ASPH
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: ASPH
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: ASPH
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: ASPH
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: ASPH
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)