TaoMedAI/RareMedData huggingface dataset:
Gene: WDR11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Asthma (HP:0002099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Short stature (HP:0004322)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Narrow chest (HP:0000774)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Death in infancy (HP:0001522)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Microretrognathia (HP:0000308)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Exotropia (HP:0000577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SLF2
Phenotype: Microtia (HP:0008551)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Hypertonia (HP:0001276)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Glue ear (HP:0040262)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Anemia (HP:0001903)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Carious teeth (HP:0000670)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Dry skin (HP:0000958)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Long face (HP:0000276)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: High palate (HP:0000218)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Basilar invagination (HP:0012366)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Long philtrum (HP:0000343)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Short chin (HP:0000331)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Prominent nose (HP:0000448)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Cataract (HP:0000518)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: SLF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ATELIS SYNDROME 1 (OMIM:620184)
Gene: HHAT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Dysarthria (HP:0001260)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Muscle spasm (HP:0003394)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Severe short stature (HP:0003510)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Severe short stature (HP:0003510)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Miosis (HP:0000616)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Increased skull ossification (HP:0004330)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Broad long bones (HP:0005622)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Trapezoidal vertebral body (HP:0005621)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Narrow chest (HP:0000774)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Narrow chest (HP:0000774)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)