TaoMedAI/RareMedData huggingface dataset:
Gene: SMCHD1
Phenotype: Aplasia of the nose (HP:0009927)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Aplasia of the nose (HP:0009927)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Single naris (HP:0009932)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Seizure (HP:0001250)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Micropenis (HP:0000054)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Hypospadias (HP:0000047)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Failure of eruption of permanent teeth (HP:0006352)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Cleft lip (HP:0410030)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Scapulohumeral muscular dystrophy (HP:0008970)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Steppage gait (HP:0003376)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Absent nares (HP:0100596)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Camptocormia (HP:0100595)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Adult onset (HP:0003581)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Facial palsy (HP:0010628)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Frequent falls (HP:0002359)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Blindness (HP:0000618)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Synophrys (HP:0000664)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Dacryocystocele (HP:0030752)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: High palate (HP:0000218)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Straight clavicles (HP:0006587)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Gene: SMCHD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Abnormal midface morphology (HP:0000309)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Keratitis (HP:0000491)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Anosmia (HP:0000458)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Anosmia (HP:0000458)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Absent tragus (HP:0011268)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Paranasal sinus hypoplasia (HP:0006784)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Cataract (HP:0000518)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Cataract (HP:0000518)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Coloboma (HP:0000589)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Visual loss (HP:0000572)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Visual loss (HP:0000572)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Chronic pain (HP:0012532)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: SMCHD1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome (ORPHA:2250)
Gene: SMCHD1
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Gene: SMCHD1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: OBSL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)