TaoMedAI/RareMedData huggingface dataset:
Gene: PAX8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Stridor (HP:0010307)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Dry skin (HP:0000958)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Dry skin (HP:0000958)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Jaundice (HP:0000952)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Jaundice (HP:0000952)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Growth delay (HP:0001510)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Growth delay (HP:0001510)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Dysphonia (HP:0001618)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Hoarse cry (HP:0001615)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Bradycardia (HP:0001662)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: CXCR4
Phenotype: Sepsis (HP:0100806)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Meningitis (HP:0001287)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Seizure (HP:0001250)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Myelokathexis (HP:0031160)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Myelokathexis (HP:0031160)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Pharyngitis (HP:0025439)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Pneumonia (HP:0002090)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Limb ataxia (HP:0002070)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Postural instability (HP:0002172)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Parotitis (HP:0011850)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Infantile onset (HP:0003593)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Abnormal small intestine morphology (HP:0002244)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Atelectasis (HP:0100750)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Abnormal neutrophil morphology (HP:0011992)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Vitiligo (HP:0001045)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Cellulitis (HP:0100658)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Verrucae (HP:0200043)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Verrucae (HP:0200043)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Papilloma (HP:0012740)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Cervix cancer (HP:0030079)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Sinusitis (HP:0000246)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Otitis media (HP:0000388)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: CXCR4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: WHIM SYNDROME (OMIM:193670)
Gene: CXCR4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: WHIM syndrome; Warts-infections-leukopenia-myelokatexis syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome (ORPHA:51636)
Gene: FZD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: High hypermetropia (HP:0008499)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Photophobia (HP:0000613)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Cortical cataract (HP:0100019)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: High myopia (HP:0011003)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Strabismus (HP:0000486)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: FZD5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Gene: BRPF1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Motor delay (HP:0001270)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Ataxia (HP:0001251)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Absent speech (HP:0001344)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Broad hallux (HP:0010055)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Acromesomelia (HP:0003086)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)