TaoMedAI/RareMedData huggingface dataset:
Gene: KIF1B
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Opsoclonus (HP:0010543)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Horner syndrome (HP:0002277)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Facial palsy (HP:0010628)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Hemangioma (HP:0001028)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Skin nodule (HP:0200036)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Fever (HP:0001945)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Anemia (HP:0001903)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Episodic hypertension (HP:0000875)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Hypertension (HP:0000822)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Abdominal mass (HP:0031500)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Tachycardia (HP:0001649)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Gene: KIF1B
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Abnormality of urine catecholamine level (HP:0011281)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: KIF1B
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: KIF1B
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: KIF1B
Phenotype: Weight loss (HP:0001824)
Associated disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Gene: IQSEC2
Phenotype: Broad palm (HP:0001169)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Iris nodule (HP:0034819)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Seizure (HP:0001250)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Seizure (HP:0001250)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Seizure (HP:0001250)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: No social interaction (HP:0008763)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Polyembolokoilamania (HP:0032508)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Onychotillomania (HP:0032509)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Absent speech (HP:0001344)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Open mouth (HP:0000194)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Constipation (HP:0002019)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Large face (HP:0100729)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Vocal cord polyp (HP:0032041)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Short REM sleep (HP:5200360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Taurodontia (HP:0000679)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Synophrys (HP:0000664)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Short stature (HP:0004322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal tracheobronchial morphology (HP:0005607)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Anxiety (HP:0000739)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Autism (HP:0000717)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Gene: IQSEC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: IQSEC2-related syndromic intellectual disability; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (ORPHA:397933)
Gene: IQSEC2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Short nose (HP:0003196)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: IQSEC2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23; Dup(X)(p11.22p11.23) (ORPHA:217377)
Gene: IQSEC2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)