TaoMedAI/RareMedData huggingface dataset:
Gene: KMT5B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Long toe (HP:0010511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Use of another person's body to communicate (HP:4000076)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Fixated interests (HP:4000070)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Tics (HP:0100033)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Wide nasal base (HP:0012810)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Febrile seizure outside the age of 3 months to 6 years (HP:0032895)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Long foot (HP:0001833)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: KMT5B
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Gene: TRAPPC12
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Spasticity (HP:0001257)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Dystonia (HP:0001332)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Dystonia (HP:0001332)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Scoliosis (HP:0002650)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Scoliosis (HP:0002650)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Dysphagia (HP:0002015)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Dysphagia (HP:0002015)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Hypoplasia of the optic tract (HP:0007096)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Developmental regression (HP:0002376)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hypoplastic optic chiasm (HP:0034311)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hip subluxation (HP:0030043)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: TRAPPC12
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome; PEBAS (ORPHA:500144)
Gene: TRAPPC12
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY (OMIM:617669)
Gene: ZDHHC9
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Seizure (HP:0001250)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Dental crowding (HP:0000678)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Psychosis (HP:0000709)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Atypical behavior (HP:0000708)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Narrow face (HP:0000275)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: High palate (HP:0000218)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: High forehead (HP:0000348)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Short philtrum (HP:0000322)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Gene: ZDHHC9
Phenotype: Protruding ear (HP:0000411)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: ZDHHC9
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)