TaoMedAI/RareMedData huggingface dataset:
Gene: LINGO1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 (OMIM:618103)
Gene: LINGO1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 (OMIM:618103)
Gene: LINGO1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 (OMIM:618103)
Gene: ATAD1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Abnormal circulating acylcarnitine concentration (HP:0012071)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Rigidity (HP:0002063)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hernia (HP:0100790)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Progressive (HP:0003676)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Esophagitis (HP:0100633)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: High palate (HP:0000218)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: ATAD1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: ATAD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: HYPEREKPLEXIA 4 (OMIM:618011)
Gene: TMTC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 122 (OMIM:620714)
Gene: TMTC4
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 122 (OMIM:620714)
Gene: TMTC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 122 (OMIM:620714)
Gene: ZNF341
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Methicillin-resistant Staphylococcus aureus infection (HP:0032326)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent infections (HP:0002719)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Pruritus (HP:0000989)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Dry skin (HP:0000958)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Alopecia (HP:0001596)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: High palate (HP:0000218)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Sterile abscess (HP:0025616)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Wide nose (HP:0000445)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: ZNF341
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE (OMIM:618282)
Gene: AOPEP
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Leg dystonia (HP:0031959)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Arm dystonia (HP:0031960)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: AOPEP
Phenotype: Weak voice (HP:0001621)
Associated disease: DYSTONIA 31 (OMIM:619565)
Gene: PPP1R15B
Phenotype: Poor speech (HP:0002465)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Seizure (HP:0001250)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Dysarthria (HP:0001260)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Slender finger (HP:0001238)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Fine hair (HP:0002213)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Fine hair (HP:0002213)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Ketosis (HP:0001946)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Oligodontia (HP:0000677)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Oligodontia (HP:0000677)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Slender toe (HP:0011308)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Synophrys (HP:0000664)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)