TaoMedAI/RareMedData huggingface dataset:
Gene: CCM2
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Headache (HP:0002315)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Focal T2 hypointense brainstem lesion (HP:0012749)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Venous malformation (HP:0012721)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Retinal cavernous hemangioma (HP:0011513)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Retinal vascular malformation (HP:0007797)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Meningioma (HP:0002858)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Hepatic vascular malformations (HP:0006576)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Neuroma (HP:0030430)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: C19orf12
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Dementia (HP:0000726)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Lewy bodies (HP:0100315)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: C19orf12
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Gene: C19orf12
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Gene: TRAPPC9
Phenotype: Tapered finger (HP:0001182)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Slender finger (HP:0001238)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Synophrys (HP:0000664)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Epicanthus (HP:0000286)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Obesity (HP:0001513)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Round face (HP:0000311)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: TRAPPC9
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Gene: TRAPPC9
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: Autosomal recessive intellectual disability due to TRAPPC9 deficiency; Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (ORPHA:352530)
Gene: JAM3
Phenotype: Seizure (HP:0001250)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Spasticity (HP:0001257)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Neonatal death (HP:0003811)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)