TaoMedAI/RareMedData huggingface dataset:
Gene: MED13L
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
Gene: MED13L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: MED13L
Phenotype: Myopia (HP:0000545)
Associated disease: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MED13L-related intellectual disability syndrome (ORPHA:369891)
Gene: ADNP
Phenotype: Tapered finger (HP:0001182)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: High anterior hairline (HP:0009890)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Microtia (HP:0008551)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Poor head control (HP:0002421)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Bruxism (HP:0003763)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Hypertonia (HP:0001276)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Motor delay (HP:0001270)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Seizure (HP:0001250)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Seizure (HP:0001250)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Hypotonia (HP:0001252)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Polyphagia (HP:0002591)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Polyphagia (HP:0002591)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Absent speech (HP:0001344)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Scoliosis (HP:0002650)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Wide mouth (HP:0000154)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Floppy infant (HP:0008947)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: High, narrow palate (HP:0002705)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Constipation (HP:0002019)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Dysphagia (HP:0002015)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Vomiting (HP:0002013)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Polydactyly (HP:0010442)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Polydactyly (HP:0010442)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Gliosis (HP:0002171)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Echolalia (HP:0010529)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Infantile onset (HP:0003593)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Congenital onset (HP:0003577)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Facial palsy (HP:0010628)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Developmental regression (HP:0002376)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Hirsutism (HP:0001007)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Slanting of the palpebral fissure (HP:0200006)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Small hand (HP:0200055)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Amblyopia (HP:0000646)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Broad hallux (HP:0010055)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Broad hallux (HP:0010055)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Pineal cyst (HP:0012683)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Oligodontia (HP:0000677)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Microdontia (HP:0000691)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Carious teeth (HP:0000670)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Broad thumb (HP:0011304)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Short stature (HP:0004322)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Short stature (HP:0004322)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Irritability (HP:0000737)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Anxiety (HP:0000739)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Anxiety (HP:0000739)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Autism (HP:0000717)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Short nose (HP:0003196)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Happy demeanor (HP:0040082)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Thin skin (HP:0000963)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Short 4th toe (HP:0008093)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Epicanthus (HP:0000286)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Broad face (HP:0000283)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Long face (HP:0000276)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Short lower limbs (HP:0006385)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)