TaoMedAI/RareMedData huggingface dataset:
Gene: KIF3B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF3B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLAA
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Bulbar signs (HP:0002483)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Bulbar signs (HP:0002483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Long fingers (HP:0100807)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Long fingers (HP:0100807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Seizure (HP:0001250)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hypotonia (HP:0001252)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Wide cavum septum pellucidum (HP:0034964)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Dystonia (HP:0001332)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Rigidity (HP:0002063)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Apnea (HP:0002104)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Small joint hypermobilty (HP:0430046)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hirsutism (HP:0001007)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Nystagmus (HP:0000639)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Progressive leukoencephalopathy (HP:0006980)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Contractures of the large joints (HP:0005781)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Contractures of the large joints (HP:0005781)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Short nose (HP:0003196)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Kyphosis (HP:0002808)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Microcephaly (HP:0000252)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: High palate (HP:0000218)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Long philtrum (HP:0000343)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Hypomimic face (HP:0000338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Micrognathia (HP:0000347)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: PLAA
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES (OMIM:617527)
Gene: PLAA
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: PLAAND; PLAA-associated neurodevelopmental disorder (ORPHA:521426)
Gene: COX5A
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Synophrys (HP:0000664)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: COX5A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Gene: NRXN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Wide mouth (HP:0000154)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Constipation (HP:0002019)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Developmental regression (HP:0002376)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Drooling (HP:0002307)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)