TaoMedAI/RareMedData huggingface dataset:
Gene: IL17RA
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Hepatitis (HP:0012115)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Papule (HP:0200034)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Folliculitis (HP:0025084)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Pustule (HP:0200039)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Erythema (HP:0010783)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Cough (HP:0012735)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Hematuria (HP:0000790)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Pruritus (HP:0000989)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Skin rash (HP:0000988)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormal lymphocyte physiology (HP:0031409)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Dyspareunia (HP:0030016)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Chronic furunculosis (HP:0011132)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 51 (OMIM:613953)
Gene: IL17RA
Phenotype: Broad nail (HP:0001821)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RA
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: FLRT3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Oligogenic inheritance (HP:0010983)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Cleft lip (HP:0410030)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Hyposmia (HP:0004409)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Gene: FLRT3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLRT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Proximal hyperreflexia (HP:0007054)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: FLRT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: APOL2
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL2
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: KIF4A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: KIF4A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: KIF4A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: KIF4A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: KIF4A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: KIF4A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
Gene: FTSJ1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: FTSJ1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Gene: NAA80
Phenotype: Tapered finger (HP:0001182)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Hypotonia (HP:0001252)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Loud snoring (HP:0025372)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Narrow mouth (HP:0000160)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Gait ataxia (HP:0002066)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Low posterior hairline (HP:0002162)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Sleep apnea (HP:0010535)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Diastema (HP:0000699)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Epicanthus (HP:0000286)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Retrognathia (HP:0000278)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Fatigue (HP:0012378)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Low-set ears (HP:0000369)
Associated disease:  (OMIM:620830)