TaoMedAI/RareMedData huggingface dataset:
Gene: YY1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Autism (HP:0000717)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Malar flattening (HP:0000272)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Malar flattening (HP:0000272)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Abnormality of the pancreatic islet cells (HP:0006476)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: High palate (HP:0000218)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: High palate (HP:0000218)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Fatigue (HP:0012378)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Low-set ears (HP:0000369)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Low-set ears (HP:0000369)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Broad forehead (HP:0000337)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Broad forehead (HP:0000337)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Micrognathia (HP:0000347)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Micrognathia (HP:0000347)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Pointed chin (HP:0000307)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Pointed chin (HP:0000307)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Astigmatism (HP:0000483)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Strabismus (HP:0000486)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Strabismus (HP:0000486)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Sandal gap (HP:0001852)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Sandal gap (HP:0001852)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Telecanthus (HP:0000506)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Telecanthus (HP:0000506)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Ptosis (HP:0000508)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Ptosis (HP:0000508)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Epiblepharon (HP:0011225)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YWHAE
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Hypotonia (HP:0001252)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Tall stature (HP:0000098)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Nephropathy (HP:0000112)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Short nose (HP:0003196)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: High palate (HP:0000218)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Omphalocele (HP:0001539)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Growth delay (HP:0001510)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Low-set ears (HP:0000369)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: High forehead (HP:0000348)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: YWHAE
Phenotype: Short neck (HP:0000470)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAE
Phenotype: Wide nose (HP:0000445)
Associated disease: 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3; 17p13.3 microduplication syndrome (ORPHA:217385)
Gene: YWHAG
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Broad-based gait (HP:0002136)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: YWHAG
Phenotype: Poor coordination (HP:0002370)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Action tremor (HP:0002345)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 (OMIM:617665)
Gene: YWHAG
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)