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Allan-Herndon-Dudley syndrome
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
Athabaskan brainstem dysgenesis syndrome
Atonic-Astatic Syndrome of Foerster
autosomal recessive intellectual developmental disorder 73
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Carnitine Acetyltransferase Deficiency
combined oxidative phosphorylation deficiency 3
congenital fibrosis of the extraocular muscles +
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Der Kaloustian Mcintosh Silver Syndrome
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Diffuse Lewy Body Disease with Gaze Palsy
Duane retraction syndrome +
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
glaucomatous atrophy of optic disc
glycogen storage disease IX +
Glycosylphosphatidylinositol Biosynthesis Defect 25
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Grubben de Cock Borghgraef Syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
Infantile Hypotonia with Psychomotor Retardation +
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
intellectual disability and myopathy syndrome
Joubert syndrome 3 A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)
Joubert syndrome with orofaciodigital defect
Levator-Medial Rectus Synkinesis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
multiple congenital anomalies-hypotonia-seizures syndrome +
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
Neuronal Ceroid Lipofuscinosis 15
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
Opsoclonus-Myoclonus Syndrome +
osteosclerotic metaphyseal dysplasia
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
scalp-ear-nipple syndrome
Setting-Sun Phenomenon, Familial Benign
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Snijders Blok-Fisher Syndrome
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
third cranial nerve disease +
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
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