TaoMedAI/RareMedData huggingface dataset:
Gene: POMGNT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Gene: POMGNT1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Fatigue (HP:0012378)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Gene: POMGNT1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: High myopia (HP:0011003)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
Gene: POMGNT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: RETINITIS PIGMENTOSA 76 (OMIM:617123)
Gene: POMGNT1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Gene: POMGNT1
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Megalocornea (HP:0000485)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Cataract (HP:0000518)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Coloboma (HP:0000589)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Coloboma (HP:0000589)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: POMGNT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: POMGNT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: POMGNT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POMGNT1
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: POMGNT1
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 (OMIM:253280)
Gene: POMGNT1
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 (OMIM:613151)
Gene: SMPD4
Phenotype: Adducted thumb (HP:0001181)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Lumbar hypertrichosis (HP:0011913)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Death in infancy (HP:0001522)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Premature birth (HP:0001622)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: SMPD4
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Gene: ZNF407
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Infantile onset (HP:0003593)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Synophrys (HP:0000664)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Kyphosis (HP:0002808)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)