TaoMedAI/RareMedData huggingface dataset:
Gene: MBD5
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short thorax (HP:0010306)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Pes valgus (HP:0008081)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Retrognathia (HP:0000278)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Malar flattening (HP:0000272)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Macrodontia (HP:0001572)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Growth delay (HP:0001510)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Cupped ear (HP:0000378)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Broad forehead (HP:0000337)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Enlarged posterior fossa (HP:0005445)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Sandal gap (HP:0001852)
Associated disease: Monosomy 2q23.1; Pseudo-Angelman syndrome; Del(2)(q23.1); 2q23.1 microdeletion syndrome (ORPHA:228402)
Gene: MBD5
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: MBD5
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Gene: CFAP44
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: CFAP44
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: CFAP44
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: CFAP44
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: CFAP44
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: CFAP44
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Gene: ERMARD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Seizure (HP:0001250)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Seizure (HP:0001250)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Abnormal cerebral cortex morphology (HP:0002538)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Hypospadias (HP:0000047)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Dysmetria (HP:0001310)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Scoliosis (HP:0002650)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Floppy infant (HP:0008947)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: High, narrow palate (HP:0002705)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Gait ataxia (HP:0002066)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Infantile onset (HP:0003593)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Nystagmus (HP:0000639)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Broad philtrum (HP:0000289)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Clinodactyly (HP:0030084)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Colpocephaly (HP:0030048)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Obesity (HP:0001513)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Micrognathia (HP:0000347)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Strabismus (HP:0000486)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Strabismus (HP:0000486)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Gene: ERMARD
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Short neck (HP:0000470)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Phimosis (HP:0001741)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Aplasia/Hypoplasia of the ribs (HP:0006712)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hallux valgus (HP:0001822)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: ERMARD
Phenotype: Prominent forehead (HP:0011220)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: ERMARD
Phenotype: Hypermetropia (HP:0000540)
Associated disease: 6q terminal deletion syndrome (ORPHA:75857)
Gene: MCTP2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Seizure (HP:0001250)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Micropenis (HP:0000054)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Small hand (HP:0200055)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Short stature (HP:0004322)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Mitral atresia (HP:0011560)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Short finger (HP:0009381)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)