TaoMedAI/RareMedData huggingface dataset:
Gene: NDRG1
Phenotype: Talipes cavus equinovarus (HP:0004696)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Postural tremor (HP:0002174)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material (HP:0006916)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Skewfoot (HP:0032649)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Hammertoe (HP:0001765)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Hereditary motor and sensory neuropathy, Lom type; CMT4D; HMSN-Lom; HMSN, Lom type; Charcot-Marie-Tooth disease type 4D (ORPHA:99950)
Gene: NDRG1
Phenotype: Glaucoma (HP:0000501)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: NDRG1
Phenotype: Myopia (HP:0000545)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Gene: MYL9
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Megacystis (HP:0000021)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Mydriasis (HP:0011499)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: MYL9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 (OMIM:619365)
Gene: YAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Hematuria (HP:0000790)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Hematuria (HP:0000790)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Cataract (HP:0000518)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Cataract (HP:0000518)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Gene: YAP1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: YAP1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Gene: TMEM147
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Curly hair (HP:0002212)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Sparse hair (HP:0008070)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: TMEM147
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY (OMIM:620075)
Gene: EMG1
Phenotype: Seizure (HP:0001250)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Short stature (HP:0004322)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)
Gene: EMG1
Phenotype: Prominent nose (HP:0000448)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: EMG1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Bowen syndrome, Hutterite type; Bowen-Conradi syndrome (ORPHA:1270)