TaoMedAI/RareMedData huggingface dataset:
Gene: GNB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Strabismus (HP:0000486)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: GNB1
Phenotype: EEG with temporal sharp slow waves (HP:0011289)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Exotropia (HP:0000577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: EEG with occipital slowing (HP:0011210)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB2
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Echogenic fetal bowel (HP:0010943)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Syncope (HP:0001279)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Slender finger (HP:0001238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Falls (HP:0002527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Cholestasis (HP:0001396)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Typically de novo (HP:0025352)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Joint swelling (HP:0001386)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Micropenis (HP:0000054)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Multiple joint dislocation (HP:0012095)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GNB2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Large forehead (HP:0002003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Asthma (HP:0002099)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Thoracic hypertrichosis (HP:0011914)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Curly hair (HP:0002212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Facial erythema (HP:0001041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Urticaria (HP:0001025)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Headache (HP:0002315)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Abnormal QRS complex (HP:0025074)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Erythema (HP:0010783)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Congenital Horner syndrome (HP:0006837)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Dental crowding (HP:0000678)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Unicornuate uterus (HP:0031909)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Ascending aorta hypoplasia (HP:0031935)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Sinoatrial block (HP:0012723)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Mitral atresia (HP:0011560)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Pes valgus (HP:0008081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Scaling skin (HP:0040189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GNB2
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Arthralgia (HP:0002829)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Chronotropic incompetence (HP:0033992)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hip subluxation (HP:0030043)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Aspiration (HP:0002835)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GNB2
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GNB2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SICK SINUS SYNDROME 4 (OMIM:619464)
Gene: GNB2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GNB2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)
Gene: GNB2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619503)