TaoMedAI/RareMedData huggingface dataset:
Gene: YEATS2
Phenotype: Jerk-locked premyoclonus spikes (HP:0001351)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Enhancement of the C-reflex (HP:0001340)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: Nonprogressive (HP:0003680)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: YEATS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: YEATS2
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Gene: PACS1
Phenotype: Large hands (HP:0001176)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Seizure (HP:0001250)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Seizure (HP:0001250)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Volvulus (HP:0002580)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Slender finger (HP:0001238)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Absent speech (HP:0001344)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Absent speech (HP:0001344)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Wide mouth (HP:0000154)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Floppy infant (HP:0008947)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Constipation (HP:0002019)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Constipation (HP:0002019)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Diastema (HP:0000699)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Diastema (HP:0000699)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Synophrys (HP:0000664)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Synophrys (HP:0000664)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Macrotia (HP:0000400)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Macrotia (HP:0000400)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Strabismus (HP:0000486)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Pes planus (HP:0001763)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Pes planus (HP:0001763)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Ptosis (HP:0000508)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Long foot (HP:0001833)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: PACS1
Phenotype: Coloboma (HP:0000589)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Oral aversion (HP:0012523)
Associated disease: PACS1-NDD; PACS1-neurodevelopmental disorder; Schuurs-Hoeijmakers syndrome; PACS1-related syndrome (ORPHA:329224)
Gene: PACS1
Phenotype: Myopia (HP:0000545)
Associated disease: SCHUURS-HOEIJMAKERS SYNDROME (OMIM:615009)
Gene: FRMD4A
Phenotype: Poor speech (HP:0002465)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Ataxia (HP:0001251)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Absent speech (HP:0001344)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Absent speech (HP:0001344)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Hirsutism (HP:0001007)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Upper eyelid edema (HP:0012724)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
Gene: FRMD4A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
Gene: FRMD4A
Phenotype: Sparse hair (HP:0008070)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)