TaoMedAI/RareMedData huggingface dataset:
Gene: EXOC2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Oval face (HP:0000300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Accessory spleen (HP:0001747)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: TBC1D23
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Ataxia (HP:0001251)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Dysarthria (HP:0001260)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Inability to walk (HP:0002540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Anal atresia (HP:0002023)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Limb ataxia (HP:0002070)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Poor coordination (HP:0002370)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Decreased body weight (HP:0004325)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Short stature (HP:0004322)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Happy demeanor (HP:0040082)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Macrotia (HP:0000400)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Pes planus (HP:0001763)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Coloboma (HP:0000589)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Esotropia (HP:0000565)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TBC1D23
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Gene: TDP1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Areflexia (HP:0001284)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Seizure (HP:0001250)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Ataxia (HP:0001251)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Steppage gait (HP:0003376)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Steppage gait (HP:0003376)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: TDP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SCAN1; Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
Gene: TDP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Gene: MBD5
Phenotype: Language impairment (HP:0002463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Microtia (HP:0008551)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Polyphagia (HP:0002591)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Polyphagia (HP:0002591)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Open mouth (HP:0000194)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Macroglossia (HP:0000158)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Constipation (HP:0002019)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short columella (HP:0002000)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Short palm (HP:0004279)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Short palm (HP:0004279)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Microdontia (HP:0000691)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Synophrys (HP:0000664)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Clavicular pseudarthrosis (HP:0034187)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Short attention span (HP:0000736)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)