TaoMedAI/RareMedData huggingface dataset:
Gene: CNTNAP2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Self-mutilation (HP:0000742)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Autism (HP:0000717)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Short nose (HP:0003196)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Generalized convulsive status epilepticus (HP:0032661)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: High palate (HP:0000218)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Obesity (HP:0001513)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Obesity (HP:0001513)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Broad forehead (HP:0000337)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Macrotia (HP:0000400)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Strabismus (HP:0000486)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CDFE syndrome; Cortical dysplasia-focal epilepsy syndrome; CNTNAP2-related DEE; CNTNAP2-related developmental and epileptic encephalopathy; CDFES (ORPHA:163681)
Gene: CNTNAP2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: CNTNAP2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Gene: AUTS2
Phenotype: Auditory sensitivity (HP:0025112)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Auditory sensitivity (HP:0025112)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Seizure (HP:0001250)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Spasticity (HP:0001257)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Narrow palm (HP:0004283)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Short stature (HP:0004322)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Periauricular skin pits (HP:0100277)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Retrognathia (HP:0000278)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Short philtrum (HP:0000322)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Strabismus (HP:0000486)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Proptosis (HP:0000520)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)