TaoMedAI/RareMedData huggingface dataset:
Gene: EBF3
Phenotype: Synophrys (HP:0000664)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Short stature (HP:0004322)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Enuresis (HP:0000805)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Anxiety (HP:0000739)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Short nose (HP:0003196)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Inverted nipples (HP:0003186)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Pes valgus (HP:0008081)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Long face (HP:0000276)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: High palate (HP:0000218)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Speech apraxia (HP:0011098)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Small earlobe (HP:0000385)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Overfolded helix (HP:0000396)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Broad forehead (HP:0000337)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Broad forehead (HP:0000337)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Widow's peak (HP:0000349)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: High forehead (HP:0000348)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Short chin (HP:0000331)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Triangular face (HP:0000325)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Triangular face (HP:0000325)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Premature birth (HP:0001622)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Oval face (HP:0000300)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Astigmatism (HP:0000483)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Astigmatism (HP:0000483)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Strabismus (HP:0000486)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Pes planus (HP:0001763)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Prominent nose (HP:0000448)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Sandal gap (HP:0001852)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Proptosis (HP:0000520)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Myopia (HP:0000545)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: MSRB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
Gene: MSRB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
Gene: MSRB3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
Gene: MSRB3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
Gene: RALGAPA1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Premature birth (HP:0001622)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Flat occiput (HP:0005469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: RALGAPA1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION (OMIM:618797)
Gene: BRWD3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Cupped ear (HP:0000378)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: BRWD3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
Gene: MCM9
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Gene: MCM9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MCM9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MCM9
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OVARIAN DYSGENESIS 4 (OMIM:616185)